Volume 20 Issue 3
Interpretation of Noninvasive Prenatal Testing Results After Fetal Reduction in a Triplet Conception By Intracytoplasmic Sperm Injection
Raajam Murali Subramaniam Renuka, Fathima Rafi, Devika Gunasheela
Abstract
Noninvasive prenatal testing (NIPT) involves screening of the maternal blood to check for the most common fetal chromosomal aneuplodies such as trisomies 21, 18, and 13 and sex chromosome aneuplodies (SCA). The accuracy of NIPT in detecting SCA is low, especially in cases of Turner syndrome. We report a case of discordant NIPT results for SCA in a pregnant woman who conceived through intracytoplasmic sperm injection (ICSI) and underwent fetal reduction (FR) at 11 weeks, from triplet to singleton pregnancy. Because of the inconclusive triple marker report at 17 weeks, the couple opted for NIPT at 18 weeks. The NIPT report showed a high risk for Turner syndrome. The fetal fraction of the cell-free DNA was 12.96%. Amniocentesis at 20 weeks revealed a low mosaic karyotype mos 46,XX/47,XXX with 14% mosaic for XXX. The karyotype of the neonate showed a low mosaic mos 46,XX/47,XXX (10%). Thus, FR or demised twin is an important factor causing discordant NIPT results. Invasive diagnostic testing with amniocentesis helps in identifying false-positive NIPT results.
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