| Autor: |
Kleinfinger P; Laboratory CERBA, 7/11 Rue de l'Équerre, 95310 Saint-Ouen-l'Aumône, France., Luscan A; Laboratory CERBA, 7/11 Rue de l'Équerre, 95310 Saint-Ouen-l'Aumône, France., Descourvieres L; Obstetrics Center, Jeanne de Flandre Hospital, CHRU Lille, 59000 Lille, France., Buzas D; Department of Obstetrics and Gynecology, René Dubos Hospital, 95300 Pontoise, France., Boughalem A; Laboratory CERBA, 7/11 Rue de l'Équerre, 95310 Saint-Ouen-l'Aumône, France., Serero S; Laboratory CERBA, 7/11 Rue de l'Équerre, 95310 Saint-Ouen-l'Aumône, France., Valduga M; Laboratory CERBA, 7/11 Rue de l'Équerre, 95310 Saint-Ouen-l'Aumône, France., Trost D; Laboratory CERBA, 7/11 Rue de l'Équerre, 95310 Saint-Ouen-l'Aumône, France., Costa JM; Laboratory CERBA, 7/11 Rue de l'Équerre, 95310 Saint-Ouen-l'Aumône, France., Vivanti AJ; Department of Obstetrics and Gynecology, DMU Santé des Femmes et des Nouveau-nés, Antoine Béclère Hospital, AP-HP, Université Paris Saclay, 92140 Clamart, France., Lohmann L; Laboratory CERBA, 7/11 Rue de l'Équerre, 95310 Saint-Ouen-l'Aumône, France. |
| Abstrakt: |
A vanishing twin (VT) occurs in up to 30% of early diagnosed twin pregnancies and is associated with an increased risk of fetal aneuploidy. Here, we describe our experience in a large VT population of 847 patients that underwent noninvasive prenatal testing (NIPT) for common fetal trisomies over a three-year period. All patients underwent an ultrasound examination prior to NIPT. Two comparison populations were included, namely, the singleton ( n = 105,560) and the viable multiple gestation pregnancy samples ( n = 9691) collected over the same period. All NIPT samples in the VT population received a result, of which 14 were high-risk for trisomy 21 (1.6%), nine for trisomy 18 (1.1%), and six for trisomy 13 (0.7%). Diagnostic testing confirmed the presence of trisomy 21 in 6/12 samples, giving a positive predictive value of 50%. One trisomy 18 case and no trisomy 13 cases were confirmed. The time between fetal demise and NIPT sampling did not appear to affect the number of true- or false-positive cases. In conclusion, NIPT is an effective screening method for trisomy 21 in the surviving fetus(es) in VT pregnancies. For trisomies 18 and 13, a positive NIPT should be interpreted carefully and ultrasound monitoring is preferrable over invasive diagnostic testing. |
