Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test

被引:123
作者
Curnow, Kirsten J. [1 ]
Wilkins-Haug, Louise [2 ,3 ]
Ryan, Allison [1 ]
Kirkizlar, Eser [1 ]
Stosic, Melissa [1 ]
Hall, Megan P. [1 ]
Sigurjonsson, Styrmir [1 ]
Demko, Zachary [1 ]
Rabinowitz, Matthew [1 ]
Gross, Susan J. [1 ]
机构
[1] Natera, San Carlos, CA 94070 USA
[2] Brigham & Womens Hosp, Dept Obstet & Gynecol, Div Maternal Fetal Med, Boston, MA 02115 USA
[3] Harvard Univ, Sch Med, Boston, MA USA
关键词
noninvasive prenatal testing; single-nucleotide polymorphism; triploidy; vanishing twin; CELL-FREE DNA; FETAL ANEUPLOIDY; CHROMOSOMES; 13; RISK; EPIDEMIOLOGY; TRISOMY-13; REDUCTION; ORIGIN;
D O I
10.1016/j.ajog.2014.10.012
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
OBJECTIVE: We sought to determine the ability of single-nucleotide polymorphism-based noninvasive prenatal testing (NIPT) to identify triploid, unrecognized twin, and vanishing twin pregnancies. STUDY DESIGN: The study included 30,795 consecutive reported clinical cases received for NIPT for fetal whole-chromosome aneuploidies; known multiple gestations were excluded. Cell-free DNA was isolated from maternal blood samples, amplified via 19,488-plex polymerase chain reaction, and sequenced. Sequencing results were analyzed to determine fetal chromosome copy number and to identify the presence of additional fetal haplotypes. RESULTS: Additional fetal haplotypes, indicative of fetal triploidy, vanishing twin, or undetected twin pregnancy, were identified in 130 (0.42%) cases. Clinical confirmation (karyotype for singleton pregnancies, ultrasound for multifetal pregnancies) was available for 58.5% (76/130) of cases. Of the 76 cases with confirmation, 42.1% were vanishing twin, 48.7% were viable twin, 5.3% were diandric triploids, and 3.9% were nontriploid pregnancies that lacked evidence of co-twin demise. One pregnancy had other indications suggesting triploidy but lacked karyotype confirmation. Of the 5 vanishing twin cases with a known date of demise, 100% of losses occurred in the first trimester; up to 8 weeks elapsed between loss and detection by NIPT. CONCLUSION: This single-nucleotide polymorphism-based NIPT successfully identified vanished twin, previously unrecognized twin, and triploid pregnancies. As vanishing twins are more likely to be aneuploid, and undetected residual cell-free DNA could bias NIPT results, the ability of this method to identify additional fetal haplotypes is expected to result in fewer false-positive calls and prevent incorrect fetal sex calls.
引用
收藏
页码:79.e1 / 79.e9
页数:9
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