Pregnancy, Women Guide

Prenatal Genetic Testing Pros and Cons

Tests for prenatal diagnosis such as amniocentesis (medical: amniocentesis) or the trimester test are not part of normal checkups. However, if there are certain familial or health risks, the doctor is obliged to show the prospective mother all the possibilities of prenatal diagnosis.

Prenatal diagnosis – only with the consent of the woman

In addition to the nature, purpose, scope and possible consequences of the proposed prenatal investigation, he must also educate the pregnant woman about risks or mental stress. The costs usually have to be borne by the woman herself.

Note: Prenatal diagnosis always requires the written consent of the woman. She may revoke her consent at any time.

What is a prenatal diagnosis (and)?

The term prenatal diagnosis, and for short, means that medicine combines all prenatal examination methods that provide information about certain disabilities and possible diseases of the unborn child. It distinguishes two basic methods:

1. Non-invasive prenatal examination methods

There is no physical intervention. Thus, these methods pose no danger to the fetus. Various parameters, such as the age of the pregnant woman or the blood values, can be used to calculate probabilities for some disorders or diseases of the child. After the noninvasive prenatal examination, there is no clear diagnosis, but only a probability recorded in numbers (example: 1: 500 or 1:25). Depending on the statement, this can have a very calming effect on the expectant parents or it can be extremely unsettling. Also, the couple must decide on their responsibility, whether they want further investigations or not.

Examples of noninvasive methods of prenatal diagnosis:

  • Cardiotocographic examination (CTG)
  • Nasal bone measurement
  • fetometry
  • fine ultrasound
  • Triple Test
  • Nackentranzparenzmessung
  • 3-D or 4-D ultrasound

2. Invasive prenatal examination methods

These examination methods require particularly careful consideration of the pros and cons because the physician directly intervenes in the body of the pregnant woman. For example, it is about tissue samples from the mothering cake, the removal of childish blood or amniotic fluid samples.

Based on the samples, the expert can make statements about possible chromosome disorders or a serious illness. Statements about the severity of a disability or severity of the disease, however, are only conditionally possible.

Examples of invasive methods of prenatal diagnosis:

  • chorionic villus sampling
  • Placental puncture
  • Fruit Wasserspiegelung
  • Amniocentesis
  • Umbilical blood sampling
  • chromosomal analysis

The most common reasons why couples choose prenatal diagnostics:

  • The desire for a healthy baby.
  • Decision support for a termination of pregnancy in the presence of certain risks.
  • The normal check-up has provided evidence of the baby’s health problems.
  • All possibilities offered by medicine should also be used.
  • The gynecologist advised the woman to prenatal diagnosis.
  • If there is a possibility of disability in the baby, the parents want to be prepared.
  • In the case of disability or illness, chances of recovery may be better if treatment is started before birth.
  • The pregnant woman is over 35 years old and is therefore afraid of complications.

The most common reasons why antenatal physicians recommend prenatal diagnostics:

  • It is the first pregnancy of a woman who is over 35 years old.
  • There are multiple pregnancies.
  • In previous pregnancies, complications such as miscarriages or stillbirths have occurred.
  • The woman has already born more than five children.
  • The expectant mother suffers from severe and chronic diseases, such as diabetes or infectious diseases.
  • The pregnancy arose from a relationship (cousin).
  • The pregnant woman is addicted to drugs or alcohol.

Prenatal diagnosis: pros and cons

The statistics of birth medicine speak a clear language: In Germany, 97 percent of babies are born completely healthy.

Nevertheless, it is a great relief for many parents if they learn before birth that their dream child is healthy. However, calming down unremarkable findings can unsettle others massively. This can lead so far that expectant mothers and fathers hardly dare to build an inner bond with their future child.

It’s true: prenatal diagnosis can help to assess disease risks or foreseeable disabilities. The couple may be prepared for future difficulties before birth or may consider stopping the pregnancy. One thing is clear: Sometimes the prenatal diagnosis is also about deciding whether a child is allowed to see the light of day. Also, invasive prenatal examinations always present a risk that premature or abortion is not to be underestimated.

Even experts in obstetrics warn that many expectant parents’ expectations of prenatal diagnosis cannot be met. Even the most modern method of investigation cannot provide 100 percent certainty but may cause immense costs, which the couple must pay for themselves.


  • The better-informed parents become, the more meaningfully they can use the possibilities of prenatal diagnostics for themselves.
  • Mothers and fathers, who also take risks and side effects into account, offer the best chance of having a healthy child, given certain uncertainties.

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