My daughter is in her second pregnancy. The first one went without any problems and a girl was born. Now we have a problem, because the clinic that performed prenatal tests (ultrasound and biochemistry according to FMF standards) determined that the risk of trisomy 21 is 1: 251 and an amniocentesis should be performed. In the published description of the study, an error was made by entering the date of birth and PESEL number incorrectly. When trying to obtain the correct description of the examination, the doctor stated that the standards of his clinic do not take into account the fact that the ultrasound examination of the nasal bone (as stated in the examination description - NB +) is not taken into account in the standards of his clinic. Therefore, I have a question for you, Doctor: Does the FMF standard of these tests take into account the fact that the nasal bone was found in the fetus? Having an amniocentesis is a very stressful decision. Please reply.
When it comes to assessingthe risk of chromosome 21 trisomyin the fetus, first of all, a computer program based on FMF standards (Fetal Medicine Foundation) calculates the risk based on the mother's age , measurements of the fetal nuchal translucency (NT - Nuchal Translucency) and the results of biochemical tests from the mother's blood (chorionic gonadotropin, PAPPA-A protein).
Additionally, you can also evaluate the nasal bone of the fetus during an ultrasound examination and on this basis modify the preliminary computerized risk calculation. If the risk was originally defined as a risk between 1:50 and 1: 1000, finding a fetal nasal bone generally lowers it.
FMF awards special certificates confirming the abilities of the doctor performing ultrasound - a separate certificate on the ability to assess the translucency of the fetal nape and a separate certificate on the ability to assess the nasal bone of the fetus.
In the described case, I recommend that you seek genetic counseling as soon as possible. Contact via a third party, even the most friendly person, additionally via the Internet and without the possibility of a personal conversation with the patient and without the possibility of a specialist seeing the results of the tests performed so far, does not allow for a reliable and credible assessment of a given clinical situation. It should be remembered that a visit to the Genetic Clinic is not synonymous with the decision to perform amniocentesis. Talking to a specialist clinical geneticist will make it possiblethe patient makes an informed decision to perform or not to undergo a prenatal test.
Remember that our expert's answer is informative and will not replace a visit to the doctor.
Krystyna SpodarKrystyna Spodar - specialist in the field of clinical genetics at NZOZ Genomed, ul. Ponczowa 12, 02-971 Warsaw, www.nzoz.genomed.pl, e-mail: [email protected]
The expert answers questions about genetic diseases and congenital malformations, inheritance, and prenatal diagnosis.
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