Vanished Twins and Misdiagnosed Sex: A Case Report with Implications in Prenatal Counseling Using Noninvasive Cell-Free DNA Screening

Kelley, James F.; Henning, George Felix; Ambrose, Anthony M.; Adelman, Alan

doi:10.3122/jabfm.2016.03.150196

Cited by 12 publications

(13 citation statements)

References 10 publications

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“…Studies regarding the frequency of vanishing twin syndrome are few, but Thurik et al estimated a frequency of vanishing twins of at least around 0.23% of pregnancies . Cases with discordance between NIPT result and fetal sex or RhD status caused by a vanished twin have also been published . Although, we still need large systematic studies to fully understand the persistence of cffDNA from a vanished twin in maternal circulation.…”

Section: Vanishing Twinmentioning

confidence: 89%

Discordant non-invasive prenatal testing (NIPT) - a systematic review

et al. 2017

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With a high sensitivity and specificity, non-invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced, and experiences with discordant results are few. We did a systematic review of literature reporting details of false positive and false negative NIPT results. Discordant sex chromosome results were not included. We identified 22 studies reporting case details. In total, 206 discordant cases were included, of which 88% were false positive and 12% false negative. Details on maternal age, gestational age, platform/company, Z-score, fetal fraction, results and explanation were specified. The main reasons for discordant results were confined placental mosaicism, maternal copy number variation, vanished twin, maternal cancer and true fetal mosaicism. A very high percentage of cases (67%) were reported with no obvious biological or technical explanation for the discordant result. The included cases represent only a minor part of the true number of false positive or false negative NIPT cases identified in fetal medicine clinics around the world. To ensure knowledge exchange and transparency of NIPT between laboratories, we suggest a systematic recording of discordant NIPT results, as well as a quality assurance by external quality control and accreditation. © 2017 John Wiley & Sons, Ltd.

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Section: Vanishing Twinmentioning

confidence: 89%

Discordant non-invasive prenatal testing (NIPT) - a systematic review

et al. 2017

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“…Apparently, in this case, resorption of the trisomy‐21 twin was almost complete at 13 + 2 weeks. In a case described by Kelley et al , a positive heart‐beat was seen in only one of two sacs at 7 + 4 weeks. NIPT at 13 + 1 weeks was indicative of a 46,XY karyotype, but at delivery a healthy female baby was born with a normal 46,XX karyotype.…”

Section: Overview Of Cases With Documented Contribution By a Vanishinmentioning

confidence: 88%

Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy‐14 cotwin

Hochstenbach

Elferink

Zon

et al. 2018

Clinical Case Reports

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Key Clinical MessageOne of the confounders in noninvasive prenatal testing (NIPT) is the vanishing twin phenomenon. Prolonged contribution to the maternal Cell‐free DNA (cfDNA) pool by cytotrophoblasts representing a demised, aneuploid cotwin may lead to a false‐positive outcome for a normal, viable twin. We show that a vanishing trisomy‐14 twin contributes to cfDNA for more than 2 weeks after demise.

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“…However, if NIPT reveals abnormality, invasive prenatal test like amniocentesis is required for definitive diagnosis. And it is important to note that confined placental mosaic or vanishing twin can yield misleading results [18,19]. Sekizawa et al reported high accuracy of fetal gender determination using cfDNA since seven weeks of gestation [20].…”

Section: Discussionmentioning

confidence: 99%

Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome

et al. 2018

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Abstract. With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed to prenatally diagnose chromosomal aneuploidies, such as trisomy 21, 18 and 13. Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance. The affected individuals are genetic males as shown by 46,XY but present complete female external genitalia and normal breast development at puberty albeit without menstruation. CAIS is commonly diagnosed in adolescence based on primary amenorrhea or in childhood based on inguinal hernia or testis-like masses in the inguinal region. In the present report, we describe a baby in whom CAIS was diagnosed immediately after birth based on a mismatch between the fetal karyotype detected by amniocentesis and the external genitalia phenotype at birth. We speculate that the increase in the number of prenatal genetic tests is contributing to the early detection of 46,XY disorders of sex development, especially those previously called complete sex reversal, which is supposedly diagnosed during childhood or adolescence. Hence, it is necessary to understand the disease-specific hormone profile at each developmental stage for accurate diagnosis.

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Vanished Twins and Misdiagnosed Sex: A Case Report with Implications in Prenatal Counseling Using Noninvasive Cell-Free DNA Screening

Cited by 12 publications

References 10 publications

Discordant non-invasive prenatal testing (NIPT) - a systematic review

Discordant non-invasive prenatal testing (NIPT) - a systematic review

Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy‐14 cotwin

Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome

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