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PRACTICE GYNÉ SINGER  Michael Singer, M.D., and Julia Hasler, M.D.

 

INFORMATION FOR PREGNANT WOMEN


Pregnancy: introduction

It is our pleasure to take care of your pregnancy in our group practice in Kuesnacht at the lake of Zurich. Our principles are the following:

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  • Pregnancy is not a disease; however, you and your baby deserve optimal medical care.
  • Prenatal care, especially so-called pre-natal diagnostics, are subject to rapid changes. Written informations would soon be obsolete. This is why we set up and continually update this on-line documentation.
  • After receiving detailed informations by our team, the pregnant woman has to make some important decisions: which prenatal tests, which vaccinations, where and how to give birth. In the field of prenatal testing, the Swiss Law on Genetical Examinations in Humans (GUMG) stipulates written informed consent. Therefore, we will ask you to confirm us with your signature that you have read and understood this on-line documentation. You may of course contact us to clarify any questions you have.

Pregnancy: information sheet of Swiss gynaecologists about prenatal testing

The following information sheet (in German) was written in 2017 by the Quality Board of the Swiss Gynaecological Society, with active participation of our Dr Michael Singer and the patients' lawyer from Swiss Patient Organisation SPO. It summarizes the legal situation of the pregnant woman regarding prenatal testing in Switzerland. She has numerous rights, including the right to qualified and staged information depending on her individual situation. According to her personal system of values, she will then position herself between the two extremes «I want to know everything that can be examined today» and «I do not want to know anything and will accept my baby as it is».

 

         

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Informationsblatt für Schwangere
Vorgeburtliche Untersuchungen des Kindes (Pränataldiagnostik)

Wir freuen uns, dass Sie schwanger sind und von unserem Team betreut werden möchten. Sie müssen im Laufe der Schwangerschaft einige wichtige Entscheidungen treffen, bei denen wir Sie gerne unterstützen und die nötigen Informationen zur Verfügung stellen möchten. Zu entscheiden ist beispielsweise, ob und welche vorgeburtlichen Untersuchungen und welche Impfungen durchgeführt werden sollen, oder wo und wie die Geburt stattfinden soll. Bereits der Ultraschall stellt eine vorgeburtliche Untersuchung des Kindes dar; zudem stehen heute verschiedene Untersuchungen im Blut der Mutter sowie Untersuchungen von Fruchtwasser bzw. Mutterkuchen des ungeborenen Kindes zur Verfügung.

  • Information und Recht auf Nichtwissen: Um wirklich frei und in Kenntnis der wichtigen Punkte entscheiden zu können, sollten Sie sich umfassend informieren. Dafür stehen wir Ihnen gerne zur Verfügung; zusätzlich können Sie auch die unabhängige Informations- und Beratungsstelle Ihres Wohnsitzkantons zu Rate ziehen. Natürlich können Sie nach erfolgter Aufklärung sämtliche vorgeburtlichen Untersuchungen des Kindes ablehnen, denn Sie haben das „Recht auf Nicht-Wissen“ – sei es ganz auf Untersuchungen zu verzichten, sei es nur einen Teil der technisch möglichen Analysen durchzuführen. Sie haben sogar das Recht, das Resultat einer schon durchgeführten Untersuchung nicht zu erfahren.

  • Zweck und Aussagekraft: Vor jeder vorgeburtlichen Untersuchung werden Sie über deren Zweck und Aussagekraft informiert, ebenso über die Möglichkeit von Folgemassnahmen (wie z.B. Fruchtwasserpunktion). Für solche Folgemassnahmen wäre in jedem Fall eine erneute Aufklärung und schriftliche Einwilligung von Ihnen nötig. Wichtig zu wissen ist, dass keine vorgeburtliche Untersuchung Ihnen ein gesundes Kind garantieren kann. Für sämtliche Untersuchungen des kindlichen Erbgutes ist von Gesetzes wegen Ihre schriftliche Zustimmung nötig. Die Übernahme der Kosten durch Ihre Grund- oder Zusatzversicherung, sowohl für die Untersuchung als auch für mögliche Folgemassnahmen, muss ebenfalls besprochen werden.

  • Unerwartete Ergebnisse: Häufigkeit und Art der untersuchten kindlichen Störungen hängen zumeist von Ihrem Alter und von Ihrer Vorgeschichte ab. In jedem Fall muss aber damit gerechnet werden, dass unerwartete und unerwünschte Ergebnisse auftreten, die mit physischen und psychischen Belastungen einhergehen. Es ist gesetzlich verboten, Eigenschaften zu untersuchen, die keinen Zusammenhang mit der Gesundheit des ungeborenen Kindes haben.

  • Konsequenzen für das ungeborene Kind: Bei der Verschmelzung von Ei- und Samenzelle macht die Natur häufig Fehler, welche zu einer fehlerhaften Anlage des Erbmaterials (Chromosomen) führen. Die Häufigkeit dieser Fehler hängt stark vom Alter der Mutter ab. Wird eine fehlerhafte Anlage wie z.B. die Trisomie 21 (Down-Syndrom) festgestellt, so verfügen wir derzeit über keine Mittel zur effektiven Behandlung; die Untersuchung dient also nicht dazu, Ihrem ungeborenen Kind zu helfen. Bei anderen Problemen des ungeborenen Kindes, wie gewissen behandelbaren Fehlbildungen, ist es hingegen von entscheidender Wichtigkeit, dass das Problem schon früh erkannt wird, um bereits während der Schwangerschaft therapeutische Massnahmen zu ergreifen und/oder die Geburt entsprechend zu planen.

  • Bedenkzeit und Widerruf: Nach erfolgter Aufklärung steht Ihnen eine angemessene Bedenkzeit zu, bevor Sie entscheiden, ob eine vorgeburtliche Untersuchung durchgeführt wird. Auch wenn Sie einer vorgeburtlichen Untersuchung des Kindes schon zugestimmt haben, können Sie Ihre Zustimmung jederzeit widerrufen.

  • Abbruch der Schwangerschaft und Alternativen: Bei auffälligen Ergebnissen ist in jedem Fall eine erneute Beratung über die Bedeutung der festgestellten Störung und über mögliche Massnahmen zur Vorbeugung und Behandlung angezeigt, allenfalls unter Beizug von weiteren Fachpersonen. Falls eine schwerwiegende unheilbare Störung festgestellt wird, werden Sie vielleicht über einen Abbruch der Schwangerschaft nachdenken. Sie haben ein Anrecht darauf, über Möglichkeiten des Schwangerschaftsabbruchs und über Alternativen dazu beraten sowie auf Vereinigungen von Eltern behinderter Kinder und auf Selbsthilfegruppen hingewiesen zu werden.

  • Freie Entscheidung: Jegliche Beratung muss gemäss Gesetz nicht-direktiv sein, d.h. Sie werden nicht in eine bestimmte Richtung gedrängt oder in Ihrem freien Entschluss beeinflusst. Die Beratung richtet sich nach Ihren individuellen und familiären Bedürfnissen. Ihr Ehegatte/Partner soll nach Möglichkeit - und nur mit Ihrem Einverständnis - in die vorgeburtliche Beratung mit einbezogen werden.

Alle diese Informationen sollen Ihnen die Freude an Ihrer Schwangerschaft auf keinen Fall nehmen! Bedenken Sie, dass die allermeisten Kinder völlig gesund zur Welt kommen. Wir freuen uns darauf, Sie durch diese spannende Phase zu begleiten.

Ihre Frauenärztin/Ihr Frauenarzt

Dieses Informationsblatt wurde erstellt durch die Kommission Qualitätssicherung der gynécologie suisse / Schweizerische Gesellschaft für Gynäkologie und Geburtshilfe und entspricht den aktuellen Empfehlungen zum Zeitpunkt der Erstellung.

Bern, 12. Juli 2017 / Copyright SGGG 2017

 

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Pregnancy: nutrition

Healthy women should observe a balanced and varied diet during pregnancy and lactation. Vegetables and fruit in sufficient amounts, daily intake of milk and dairy products, meat two to three times per week and fish once or twice per week are recommended.

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Make sure you drink enough (1.5 to 2.5 liters per day). All vegetables and fruit must be thoroughly rinsed under tap water prior to eating.

 

The requirements of vitamins are increased, especially during the first trimester of pregnancy, why it makes sense to use a multi-vitamin supplement tailored for pregnant women. Folic acid is of greatest importance; its supplementation should start already four weeks before conception. The minimum daily dose of folic acid is 0.4 mg per day. By supplementing folic acid, the risk of neural tube defect in the baby (spina bifida, split spine) can be reduced substantially.

 

As for contamination with germs, toxoplasmosis (transmitted by raw meat, contact with cats or unwashed vegetables) and listeriosis (transmitted by raw milk and its dairy products) are the main concerns during pregnancy. Avoid eating raw meat and soft cheese from raw milk, and do not drink raw milk. Raw or smoked fish from fish farms (like salmon and trout) can also be contaminated by listeriosis and should therefore be avoided. Read our special page on toxoplasmosis to learn why blood testing for toxoplasmosis was abandoned in Switzerland.

 

You may and should gain weight during pregnancy. If your starting weight is normal, an increase of 10-12 kg would be ideal, 7 kg weight gain is minimum. Underweight women with a body mass index (BMI) below 18 should even gain 12-18 kg. Even if overweight, you should avoid dieting during pregnancy. Appetite suppressants must be avoided by all means.

 

It is established that children of alcoholic mothers suffer from malformations, growth retardation, intelligence defects and behavioral problems. It has not been fully clarified whether low amounts of alcohol are already harmful for the baby; one glass of wine or champagne per week (so-called social drinking) is probably safe. The same is true for one or two cups of coffee per day. Smoking should be avoided during the entire pregnancy, because nicotine passes the placenta (already a few seconds after the first drag) and accumulates in the baby in high concentrations, the immature liver and kidneys of the baby not being able to remove it effectively. Growth retardation, premature labour, increased rate of infections, breathing problems of the neonate and sudden infant death syndrome are just few of the possible consequences.

 

Please feel free to ask more questions about nutrition during your next appointment in our practice.

Pregnancy: vaccinations

According to current recommendations of the Swiss Federal Office of Health, we offer all pregnant women vaccinations against whooping cough (pertussis) and influenza, starting in the second trimester. Please bring your vaccination card to your first pregnancy visit!

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Whooping cough (pertussis)

Pregnant women should be vaccinated if their last (booster) shot was more than five years ago. Fathers and other contacts of the newborn should also check their vaccination status. This reduces substantially the risk of severe pertussis of the newborn or infant.

Swiss Federal Office of Health, Factsheet PDF (German)

 

Influenza vaccination during pregnancy

Starting 2013, flu vaccination is recommended to all pregnant women, regardless of gestational age (the safety of the vaccine during the first trimester has been demonstrated). The national recommendation extends also to post-partum mothers having delivered in the last four weeks. All those persons should be vaccinated between mid-October and mid-November. Vaccination prevents severe courses of the disease and complications like pneumonia, preterm birth or growth retardation. Children of vaccinated mothers suffer from less infections during their first year of life.

Swiss Federal Office of Health,Factsheet PDF (German)

 

Prenatal testing: ultrasound

 

During your prenatal visits, we will check your baby for possible risks. Ultrasound is the only method to visualize the unborn baby directly.

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Safety

Ultrasound is is safe; it has been used for pregnancy checkups since almost forty years, and no direct harm to  fetus or mother has ever been demonstrated. With the low ultrasonic energy level in contemporary devices, no negative effects are to be expected.

 

Benefit

Ultrasound can give answers to important questions regarding the course and outcome of pregnancy:

 

In the first trimester (10-13 weeks), we can demonstrate the vitality of the pregnancy and calculate gestational age. This is of paramount importance, e.g. to ascertain slow fetal growth in a later stage. Multiple pregnancies can be diagnosed, as well as certain severe malformations. The measurement of nuchal translucency gives an important clue to detect genetic problems like Down's syndrome.

 

In the second trimester (20-23 weeks), we check fetal growth and quantity of amniotic fluid, both crucial indicators of normal development. Important malformations of head, brain, spine, heart, kidneys, stomach and extremities can be excluded. The location of the placenta is documented, as a low-lying or even overlying placenta can produce dangerous bleedings in later pregnancy.

 

In the third trimester (30-34 weeks), fetal growth is of highest interest. A baby of normal size with normal quantity of amniotic fluid proves good functioning of the placenta. The baby should now have turned in cephalic (head-down) presentation to allow a normal delivery. Some malformations with practical consequences for immediate postnatal care can only be detected at this late stage.

 

Significance of ultrasound

In case of normal ultrasound examination, your baby will most probably be fine. However, it is not possible to guarantee a completely healthy baby. Ultrasound has very good sensitivity (90%) to detect severe problems which could be incompatible with life; it has fairly good sensitivity (75%) to detect problems necessitating intensive postnatal care, but is only moderately sensitive (30%) in the detection of less important malformations like supernumerary fingers or minor heart defects.

 

A normal ultrasound scan influences the ensuing prenatal care and can be very comforting for the parents to-be. When a problem is detected, ultrasound is laying the foundation of informed decisions. Parents can prepare themselves for the birth of a sick child, the delivery can be planned in a center equipped for the expected problem, and even fetal treatment during pregnancy is occasionally available.

 

The routine scans at 10-13 and 20-23 weeks, as well as additional scans in case of risks or suspected problems, are being reimbursed by Swiss basic health insurance.

 

Ultrasound is a prenatal test under the Swiss law governing genetic testing in humans (GUMG). Depending on the result, additional tests like sampling of amniotic fluid can be necessary. An unexpected result, i.e. the detection of a major fetal problem, can place you in an ethical dilemma („should I continue my pregnancy or terminate it?”). As in all prenatal testing, there is a right not to know, so we kindly ask you to tell us if you do not wish ultrasound examinations for personal reasons. We will gladly give you more informations personally, and can organise independent counseling by experts.

 

3D/4D ultrasound

Modern technology can visualise the baby in three dimensions (3D) or in serial 3D motion pictures (4D). Conventional ultrasound provides only a cross-section image (2D), e.g. of the fetal profile.

 

3D/4D ultrasound has normally no medical function and is meant to give pleasure to the parents to-be. Our group practice offers the following, non-reimbursable package for 250 Swiss francs:

  • USB stick with Gyné logo (please bring it to every visit);
  • 3D/4D images during the entire pregnancy, stored on the USB stick, provided the baby is lying in a favorable position and there is enough amniotic fluid to detect the body contours;
  • Electronical copy of the medical file in PDF format, updated at every visit, which is practical for travelling.

 

 

Prenatal testing: first trimester test, nuchal translucency

Approximately three percent of all newborns are affected with a handicap or malformation; many of those problems are of minor importance or can be corrected surgically.

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Ultrasound and genetic testing can detect over 80 percent of all malformations prior to birth. However, there is no such thing as a medical guarantee for a completely healthy child.

 

Prenatal testing in the narrower sense checks the genetic code of the unborn baby. The most common problem is the so-called Down's syndrome (trisomy 21), where the baby carries three instead of two copies of chromosome number 21 (marked in red). The frequency of trisomy 21 heavily depends on the age of the mother (see table of risk figures in chapter 4.5).

 

 

 

Nuchal translucency (NT)

This relatively new warning sign for a genetic problem is being checked by ultrasound between week 11 and 14. The fetus should have a minimal crown-rump-length of 38 millimeters to give a meaningful reading. The examination requires experience, a good ultrasound device and maximum magnification. At this stage of development, it is normal for a fetus to have a thin layer of liquid in the nuchal region (small red line on bottom left); nuchal translucencies superior to 3.5 millimeters (bottom right), however, document a problem of lymphatic drainage and are highly suspicious of a genetic problem and/or malformations.

 

 

How to proceed if the NT is superior to 2.5 mm (5% of all pregnant women)

In case of abnormal NT findings, invasive prenatal testing by chorionic biopsy or amniocentesis is recommended (see chapter 4.4). A NT of 2.5 - 3.4 mm corresponds to a gray zone, whereas NTs of 3.5 mm and more (which occur in 1% of pregnancies) should be investigated further on all accounts.

 

First trimester blood test

Your individual risk of trisomy 21 as well as trisomy 18/13 can be calculated statistically by providing the age of the mother, the nuchal translucency and a blood sample. This test is a statistical estimate, not a definite diagnosis. The first trimester blood test is covered by health insurance and is available within a few days.

 

Measuring NT alone detects approx. 70% of fetuses with trisomy 21 (Down's syndrome); the combination with the first trimester blood test detects between 80% and 90%.

Prenatal testing: new blood tests (NIPT)

Shortly after the millenium, technologies were introduced which allow for semi-automatic analysis of human DNA fragments by so-called massive parallel sequencing. The HUman GEnome project (HUGO) deciphered the entire human genome. With these informations, fragments of cell-free fetal DNA (which normally circulate in the blood of the mother) were identified in a simple maternal blood sample as early as in the tenth week of pregnancy.

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This so-called shotgun sequencing is a massive effort, both in the laboratory as in the computer-based analysis. Only specialised laboratories can realise the necessary investments. The procedure is also called NIPT (non-invasive prenatal testing).

 

If, after counting millions of fragments, the chromosome 21 is present in increased amount, it can be concluded with high certainty that the unborn child carries three instead of two copies and is therefore affected with Down's syndrome (trisomy 21).

 

Left: maternal blood with chromosomes of the mother (green-yellow) and normal proportion of fetal chromosomes 21 (red-blue). Right: With an unborn baby carrying trisomy 21, there is an excess of fetal (red-blue) chromosomes 21.

 

Tests offered by our group practice

  • Panorama test (Genetica lab, Zurich / Natera Inc., California) - examines only meaningful "snippets" of chromosomes (SNPs, single nucleotid polymorphisms) and compares them with those of mother and father (which is why, if possible, we take a mouth swab of the father). Not possilble after egg donation abroad.
    Basic testing: trisomies 21, 18 und 13, triploidy, Turner syndrome - Cost 950.-- CHF.
    NEW since July 2015: the basic testing will be covered by Swiss basic health insurance, provided the first trimester blood test gave a trisomy risk of higher than 1:1000.

    ADDITIONAL TESTS available since July 2014: additional testing for so-called microdeletion syndromes (DiGeorge, Prader-Willi, Angelman, Cri-du-chat, 1p36) - additional cost 230.-- CHF.
    The five microdeletion syndromes examined represent grave conditions, which affect one newborn baby per thousand in total. Those opting for NIPT testing will, in their majority, also ask for this additional test, unless they just want to exclude trisomy 21.
  • PrenDia test (Laboratory Genesupport, Niederwangen, Switzerland). This test is also possible in women lacking blood relationship with the baby, i.e. those after egg donation abroad. Moreover, it analyses other chromosomes than the usual 21,18,13,X,Y, which can represent an advantage in rare chromosomal problems; in 5% of abnormal tests, however, situations will be detected where the baby is usually normal, like so-called mosaicism of the placenta. This in turn can lead to unnecessary fear on the part of the parents to-be. Cost is 1'350.-- CHF.

 

Facts - and open questions

  • The test represents a medical progress and expands the so-called non-invasive spectrum of test methods for genetic problems (non-invasive prenatal testing, NIPT). Non-invasive means that only a blood test is necessary, so there is no residual risk of miscarriage like in amniocentesis or chorionic biopsy. In the meantime, the experts agree on the fact that all pregnant women must be informed that such testing is available.
  • Depending on the product, the test detects the trisomies 21, 18 and 13, as well als maldistributions of sex chromosomes X and Y. It can be performed from nine full weeks of pregnancy onwards; it takes ten to fourteen days from blood sampling to result. The test costs between 950 and 1500 Swiss francs which are presently not reimbursed by health insurance (please check whether your private insurance will offer a voluntary partial coverage). 98% to 99% cases of trisomies 21 will be detected, but not all of them; especially so-called mosaic trisomies will be missed. In twins, the test cannot be used at present. An abnormal test result should in any case be verified by amniocentesis (see next chapter).
  • The NIPT test does not substitute for the detailed ultrasound examination at 11-14 weeks. Especially the measurement of nuchal translucency (NT, see previous chapter) is still essential, because this warning sign can detect non-genetic problems as well. The ultrasound - which proves that the pregnancy is still vital - should be performed first. Only after the ultrasound, we will jointly decide how to proceed (conventional first trimester blood test, new NIPT blood test, direct invasive testing or no more examinations).
  • The new NIPT blood test was developped and validated in high-risk pregnancies. Young pregnant women with normal nuchal translucency carry such a small risk that NIPT would possibly give as many false positive results as it would detect real problems. For this reason, we rather recommend conventional first trimester blood testing in young women with normal NT, already for financial considerations; however, the wish to perform NIPT directly will always be honored.
  • In the medium run, other genetic problems will be recognizable with the same technology. With increasing availability and sinking cost, NIPT could replace the first trimester blood test altogether. Medical counseling about prenatal testing has undoubtedly become even more complex and demanding.
  • Our group practice has been offering NIPT since 2012 together with our partner laboratories.

 

Ethical considerations

There is a broad democratic consensus in our society in favour of prenatal testing (and thus ultimately in favor of terminating pregnancies with genetic disorders). Distribution disorders of genetic material such as trisomy 21 depend heavily on the age of the mother, which is why many elder mothers are concerned whether her unborn child is healthy. However, all tests (ultrasound, blood test, amniocentesis) are voluntary, and a minority declines testing and would accept a disabled child. In German, this corresponds to the old antagonism between "guter Hoffnung sein" (to be "in good hope") and «ein (gesundes) Kind erwarten» (expecting a - healthy - child).

 

The NIPT blood test does not entail anything fundamentally new in this regard, except that testing for trisomy 21 will get even more simple. Therefore, ethicists fear that - if fewer and fewer children with trisomy 21 will be born - these disabled human beings will be marginalized even further. It is our stance that the well-informed pregnant woman should decide by herself, if and which prenatal testing she wants to use; the respect for handicapped persons should in no way depend on their number.

Prenatal testing: amniocentesis

Dr Lang und Dr Singer possess ample experience with amniocentesis in pregnant women. Amniocentesis (tap of amniotic fluid) is usually performed between week 16 and 18 of pregnancy. A thin needle punctures the bag of waters (amniotic sac) in order to aspirate 12 to 15 ml of amniotic fluid.

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The removed fluid is reproduced within hours. The puncture takes place under ultrasonic guidance, which should make an injury to the fetus impossible. The risk of miscarriage after amniocentesis amounts to 0.5% maximum (one in two hundred); it needs to be weighed against the individual risk of fetal genetic problems.

 

 

Top left: schematic representation of amniocentesis. Top right: rapid genetic probing using the FISH method. Every colored dot corresponds to a chromosome.

 

We recommend avoiding physical stress during the first 24 hours after amniocentesis. Slight, menstrual-like cramps and slight vaginal bleeding may occur; in the rare case of stronger pain or bleeding, you should contact us immediately under the emergency number stated on our telephone answering machine. The result will be available within 12 to 14 days; by paying an express surcharge of 300 francs, you can order the FISH rapid test which is available within 24 to 48 hours. The normal test costs about 900 francs and will be covered by health insurance only in case of higher risk (age of the mother over 35 years at the due date, abnormal first trimester testing, family history of genetic disease).

 

?? Pros and cons ??

Whether or not to perform blood testing and/or amniocentesis must be discussed thoroughly. The father to-be is cordially invited to participate in this discussion. The key point is that after comprehensive and transparent medical information, you should decide whatever makes you sleep well during the remainder of your pregnancy.

 

Chorionic biopsy

In chorionic biopsy, cells of the placenta are aspirated by means of a special needle, which is possible at an earlier stage of pregnancy (starting at 11 weeks). The result, however, is somewhat less reliable than the result of amniocentesis, because it rarely occurs that the genetic codes of placenta and fetus do not match. This method is especially recommended for pregnant women who already gave birth to a child with abnormality. For a chorionic biopsy, we refer you to a specialised doctor in downtown Zurich.

Prenatal testing: risk figures

In the table below, you can look up your individual risk for the most common genetic problem, trisomy 21 (Down's syndrome). The red column shows the age of the mother, the column left of it reads the baseline risk of trisomy 21 at that given age.

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The column on the right of age shows the risk of trisomy 21 at the time of the recommended ultrasound scan at 11 to 14 weeks. This risk is higher than the risk at birth on the left, because a certain proportion of trisomic babies would die in later pregnancy.

 

Example for a 30-year-old woman: risk at birth 1:910, risk at 11-14 weeks 1:415, but with a nuchal translucency inferior to 2.5 mm only 1:2075.

 

Risk of trisomy 21 at birth (without ultrasound) YOUR
AGE
Risk at the moment of ultrasound (11-14 weeks) Risk for a given nuchal translucency (NT) in millimeters
<2.5 2.5-3.4 3.5-4.4 4.5-5.4 >5.4
1:1529 20 1:696 1:3480 1:183 1:34 1:26 1:17
1:1508 21 1:687 1:3435 1:181 1:33 1:26 1:17
1:1482 22 1:675 1:3375 1:178 1:33 1:26 1:17
1:1448 23 1:659 1:3295 1:173 1:32 1:25 1:16
1:1405 24 1:640 1:3200 1:168 1:31 1:24 1:16
1:1352 25 1:616 1:3080 1:162 1:30 1:23 1:15
1:1287 26 1:586 1:2930 1:154 1:28 1:22 1:14
1:1209 27 1:551 1:2755 1:145 1:27 1:21 1:13
1:1129 28 1:510 1:2550 1:134 1:25 1:19 1:12
1:1019 29 1:464 1:2320 1:122 1:23 1:18 1:11
1:910 30 1:415 1:2075 1:109 1:20 1:16 1:10
1:797 31 1:363 1:1815 1:96 1:18 1:14 1:9
1:648 32 1:311 1:1555 1:82 1:15 1:12 1:8
1:575 33 1:262 1:1310 1:69 1:13 1:10 1:6
1:475 34 1:216 1:1080 1:57 1:10 1:8 1:5
1:385 35 1:175 1:875 1:46 1:8 1:7 1:4
1:308 36 1:140 1:700 1:37 1:7 1:5 1:3
1:243 37 1:111 1:555 1:29 1:5 1:4 1:3
1:190 38 1:86 1:430 1:23 1:4 1:3 1:2
1:147 39 1:67 1:335 1:18 1:3 1:3 1:2
1:113 40 1:51 1:255 1:13 1:2 1:2 1
1:86 41 1:39 1:195 1:10 1:2 1 1
1:66 42 1:30 1:150 1:8 1 1 1
1:50 43 1:23 1:115 1:6 1 1 1
1:38 44 1:17 1:85 1:4 1 1 1
1:29 45 1:13 1:65 1:3 1 1 1

 

For all mothers combined, the risk of trisomy 21 amounts to approx. 1:700. Other genetic problems sum up to another 1:700 (trisomy 18 1:3000, trisomy 13 1:5000, problems of sex chromosomes 1:700). This means less than 0.5% of newborns have a genetic problem, while 3% are affected with a malformation. The majority of babies with malformation have thus a normal genetic code.

Pregnancy: toxoplasmosis

Toxoplasmosis is an infection caused by a microscopically small parasite. During pregnancy, a toxoplamosis infection of the mother can affect the baby; in rare instances, this can cause eye and brain damage. The infection is transmitted primarily by eating raw or undercooked meat.

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How can I protect my unborn baby?
There are drugs with a certain effect against the parasite; however, they cannot prevent the transmission of disease to the fetus, nor the presence of symptoms in the newborn. Hence it is not helpful to diagnose or treat the infection during pregnancy.

 

Are there other possibilities to protect my baby?
You can minimize the risks of toxoplasmosis for your baby by observing some simple precautions, which reduce the probability of getting infected with toxoplasmosis during pregnancy.

 

What precautions are effective in the kitchen and regarding nutrition?
Avoid eating raw (Tartare) or undercooked/underdone meat throughout pregnancy, especially beef, lamb, poultry and venison. Always wash your hands and kitchenware thoroughly after coming into contact with raw meat or innards.

 

What else can I do (house, gardening, profession)? What if I own a cat?
In cats, the parasite can multiply in the bowel and will be excreted with the faeces. The infection risk associated with cat excrements in the environment is considered rather low, but it still makes sense to wash hands after touching sand or dirt, as well as after cleaning fresh vegetables. Do not feed your cat raw meat, give her canned food instead. The cat's litter box should not be placed in the kitchen; wear rubber gloves to clean it and wash your hands thereafter. Meticulous hand hygiene is to be observed when working in farming, restaurants, florist or pet shops.

 

In 2009, blood screening for toxoplasmosis in healthy pregnant women was officially abandoned in Switzerland (see link below).

 

 

 

Swiss Federal Office of Health, Factsheet PDF (German)