I met with Mrs. Delphine LAMY born on 16.09.1987, following the discovery of a probable trisomy 13 in her fetus, identified by NIPT.
Mrs. LAMY is currently undergoing her 6th pregnancy with three already healthy children born in 2013, 2015, and 2018. However, she has already had three early spontaneous miscarriages. There are no very specific antecedents. There is no known consanguinity in the couple.
Initially, it was the screening of first-trimester serum markers that found an estimated risk of trisomy 21 at 1/60.
The couple did not wish to undergo amniocentesis, and the NIPT found an overrepresentation of DNA sequences derived from chromosome 13, suggesting a fetal trisomy 13.
Usually, we verify this karyotype by amniocentesis to confirm the diagnosis but also the mechanism of this potential trisomy 13. It is indeed important to know whether it is a usual accidental trisomy 13, a free trisomy, or a very rare translocation involving chromosome 13.
Furthermore, a recent morphological ultrasound was performed by Dr. M. ÉDOUARD, which indeed found malformations evocative of trisomy 13: semi-lobar or lobar holoprosencephaly, probably right ventricular outflow tract cardiopathy, small associated VSD, ear anomalies, at least unilateral microphthalmia, bilateral cleft lip and palate.
After discussion with Mrs. LAMY, the couple has a very clear position: they wish to continue the pregnancy with palliative care support at birth. They do not wish for any aggressive measures with resuscitation.
Mrs. LAMY understands well that this is a polymalformative syndrome with a severe prognosis. It is impossible to know whether survival may be a few hours, weeks, or months.
At this stage, it is important that they meet the neonatology team. They will also meet with the midwife on the same day to organize the delivery.
It will be important to perform the fetal karyotype at birth, either from cord blood or in the first days of life.
I remain at your disposal.
Best regards.