Obstet Gynecol Sci.  2016 Sep;59(5):357-366. 10.5468/ogs.2016.59.5.357.

Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy

• Park SY
• Jang IA
• Lee MA
• Kim YJ
• Chun SH
• Park MH

• KMID: 2391685
• DOI: http://doi.org/10.5468/ogs.2016.59.5.357

Abstract

OBJECTIVE
This study was designed to review the screening performance of combined test at the Ewha Womans University Mokdong hospital.
METHODS
All women admitted for routine antenatal care between January 1st 2008 and December 31st 2012 with a known pregnancy outcome were included in this study, totaling 1,156 women with singleton pregnancies presenting at 10 to 13 weeks of gestation. Women were offered screening using a combination of maternal serum pregnancy-associated plasma protein-A, free β-human chorionic gonadotropin and fetal nuchal translucency thickness. Those with an estimated risk of ≥1 in 250 of carrying a fetus with trisomy 21 or ≥1 in 300 risk of trisomy 18 were offered genetic counseling with the option of an invasive diagnostic test.
RESULTS
The median of gestational age was 11+3 weeks, the median of crown-rump length was 47.1 mm, and the median age of the women was 31 years. The detection rate was 80% for trisomy 21 (4 of 5) and 100% for trisomy 13 and 18 (all 2). The false-positive rate was 7.73% for trisomy 21 and 1.21% for trisomy 18.
CONCLUSION
This study was the first large population study performed with the aim of analyzing the performance of the combined test in Korea. This study demonstrated that the detection rates and other figures of the first trimester combined test are comparable to the results reported in other papers worldwide. Consequently, if strict conditions for good screening outcomes are achieved, the first trimester combined test might well be the earliest detectable screening, improving detection rates without increasing karyotyping or economic and other implications that inevitably ensue.

Keyword

Combined test; Down screening; Fetal aneuploidy; First trimester screening; Prenatal diagnosis

MeSH Terms

Chorionic Gonadotropin
Chromosome Aberrations*
Crown-Rump Length
Diagnostic Tests, Routine
Down Syndrome
Female
Fetus
Genetic Counseling
Gestational Age
Humans
Korea
Mass Screening*
Nuchal Translucency Measurement
Pregnancy
Pregnancy Outcome
Pregnancy Trimester, First*
Pregnancy*
Pregnancy-Associated Plasma Protein-A
Prenatal Diagnosis
Trisomy
Chorionic Gonadotropin
Pregnancy-Associated Plasma Protein-A

Figure

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  Fig. 1 First trimester screening protocol using combined test. NT, nuchal thickness; PAPP-A, pregnancy-associated plasma protein-A; fβ-hCG, free β-human chorionic gonadotrophin.

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  Fig. 2 Pregnancy outcome according to screening of trisomy (T) 21. CVS, chorionic villous sampling; TS, Turner syndrome.

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  Fig. 3 Pregnancy outcome according to screening of trisomy (T) 18. CVS, chorionic villous sampling; TS, Turner syndrome.

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  Fig. 4 Pregnancy outcome according to screening of trisomy (T) 21 and 18. CVS, chorionic villous sampling; TS, Turner syndrome.

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