Chromosomal Abnormalities in Korean Fetuses with Nuchal Translucency above the 99th Percentile

Dong Wook Kwak; Hyeyeon Boo; Eun Hye Chang; Hyun Mee Ryu; You Jung Han; Jin Hoon Chung; Moon Young Kim; Eun Jung Yang; Hye Ji Yoo; Jin Woo Kim

doi:10.14734/PN.2019.30.2.78

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Kwak, Boo, Chang, Ryu, Han, Chung, Kim, Yang, Yoo, and Kim: Chromosomal Abnormalities in Korean Fetuses with Nuchal Translucency above the 99th Percentile

Original Article

Perinatology 2019;30(2):78-82.

Published online: 4 June 2019

DOI: https://doi.org/10.14734/PN.2019.30.2.78

Chromosomal Abnormalities in Korean Fetuses with Nuchal Translucency above the 99th Percentile

Dong Wook Kwak, MD, PhD¹, Hyeyeon Boo, MD², Eun Hye Chang, MD³, Hyun Mee Ryu, MD, PhD^4,, You Jung Han, MD, PhD⁵, Jin Hoon Chung, MD, PhD⁵, Moon Young Kim, MD, PhD⁵, Eun Jung Yang, MD⁶, Hye Ji Yoo, MD⁶, Jin Woo Kim, MS⁷

¹Department of Obstetrics and Gynecology, Ajou University School of Medicine, Suwon, Korea

²Department of Obstetrics and Gynecology, Hanyang University Guri hospital, Hanyang University College of Medicine, Guri, Korea

³Department of Obstetrics and Gynecology, Areumcheil Women's Hospital, CHA University, Seongnam, Korea

⁴Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, Korea

⁵Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, Yonsei University College of Medicine, Seoul, Korea

⁶Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Korea

⁷Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea

Correspondence to Hyun Mee Ryu, MD, PhD Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, 59 Yatap-ro, Bundang-gu, Seongnam 13496, Korea Tel: +82-31-780-5290 Fax: +82-31-780-5089 E-mail: hmryu2012@naver.com

Received 2 October 2018 Revised 25 October 2018 Accepted 23 November 2018

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Objective

To evaluate the prevalence and distribution of chromosomal defects in Korean fetuses with nuchal translucency (NT) above the 99th percentile and to analyze them according to the degree of NT thickness.

Methods

This study retrospectively reviewed the medical records and ultrasonography images of pregnant women whose fetuses were diagnosed with NT ≥3.5 mm at 11 to 14 weeks of gestation and who underwent karyotyping between 2009 and 2015 at Cheil General Hospital, Seoul, Korea.

Results

Among 514 fetuses that met the inclusion criteria, 198 (38.5%) fetuses were confirmed as having chromosomal defects. 156 (30.4%) fetuses concerned autosomal aneuploidies, 27 (5.3%) sex- chromosome aneuploidies, and 1 (0.2%) triploidy. Besides, 11 fetuses (2.1%) were identified as pathogenic structural unbalanced chromosome aberration. When the study populations were divided based on NT thickness, 19.8% fetuses with a thickness of 3.5-4.4 mm, 33.0% of 4.5-5.4 mm, 50.3% of 5.5–6.4 mm, and 67.2% of 6.5 mm or more had chromosomal defects.

Conclusion

The incidence of chromosomal abnormalities of Korean fetuses with NT thickness above 99th percentile increases with NT thickness, and the prevalence and distribution based on NT thickness were very similar to those of Caucasian fetuses in previous reports.

Keywords: Aneuploidy, Pregnancy trimester, first, Nuchal translucency measurement, Karyotyping

References

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Table 1.

Type of Chromosomal Abnormality in 514 Fetuses with Enlarged Nuchal Translucency (≥3.5 mm)

Type of chromosomal abnormality	Value
Numerical abnormality	184 (35.7)
Trisomy 21	81 (15.8)
Trisomy 18	65 (12.6)
Trisomy 13	8 (1.6)
Trisomy 16	2 (0.4)
Monosomy X	26 (5.1)
Trisomy X	1 (0.2)
Triploidy	1 (0.2)
Structural abnormality	14 (2.7)
Unbalanced chromosome aberrations	11 (2.1)
Balanced chromosomal aberrations	3 (0.6)

Values are presented as number (%).

Table 2.

Incidence of Chromosomal Defects according to Nuchal Translucency Thickness

Nuchal translucency (mm)	Value	Abnormal karyotype	Type of chromosomal defects
Nuchal translucency (mm)	Value	Abnormal karyotype	Trisomy 21	Trisomy 18	Trisomy 13	Monosomy X	Others
3.5–4.4	217 (42.2)	43 (19.8)	31 (72.1)	7 (16.3)	1 (2.3)	0 (0)	4 (9.3)
4.5–5.4	94 (18.3)	30 (33.0)	18 (58.0)	7 (22.6)	2 (6.7)	1 (3.3)	2 (6.7)
5.5–6.4	69 (13.4)	35 (50.7)	13 (37.1)	18 (51.4)	2 (5.7)	1 (2.9)	1 (2.9)
≥6.5	134 (26.1)	90 (67.2)	19 (21.1)	33 (36.7)	3 (3.3)	24 (26.7)	11 (12.2)
Total	514	198 (38.5)	81 (40.9)	65 (32.8)	8 (4.0)	26 (13.1)	18 (9.1)

Values are presented as number (%).

Table 3.

Details of Cases with Increased NT and Other Ultrasonography Findings and Chromosomal Defects Other than Common Trisomy

Case	GA at sonography (weeks)	Ultrasonography findings	Karyotype	Inheritance	Pregnancy outcomes
Numerical abnormalities
1	13+4	NT: 7.1 mm	47,XX,+16	–	Follow up loss
2	12+0	NT: 9.4 mm Megacystis	47,XX,+16	–	IUFD at 13+4 weeks
3	11+4	NT: 4.7 mm	46,XXX,der(13;14)(q10;q10)	De novo	Follow up loss
	20+1	Cleft lip and palate, bilateral club feet, complex CHD, vertebra body abnormality, small for gestational age
4	12+0	NT: 9.2 mm	69,XXX triploidy	NA	Follow up loss
Unbalanced chromosome aberrations
5	13+6	NT: 3.6 mm	46,XY,der(9)t(2;9)(q33;p22)	Paternal	IUFD at 22+5 weeks
	20+5	Bilateral angular deformity of fetal feet, echogenic bowel, small for gestational age
6	12+4	NT: 3.7 mm	46,XY,der(5)t(5;7)(p14;p21)	Paternal	TOP at 22+3 weeks
	20+2	Intracranial hemorrhage, left ankle deformity, oligohydramnios
7	12+3	NT: 5.5 mm	46,XY,der(1)t(1;7)(p36.3;p15)	De novo	TOP at 14+5 weeks
8	11+3	NT: 5.6 mm	46,XX,add(17)(p13)	NA	IUFD at 14 weeks
		Hypoplastic nasal bone
9	13+2	NT: 5.8 mm	46,XY,der(22)t(11;22)(p11.1;p11.2)	Paternal	IUFD at 15+4 weeks
		Cardiomegaly, facial anomaly, echogenic bowel
10	11+6	NT: 6.5 mm	46,XY,der(4)t(3;4)(q23;q35)	Paternal	TOP at 15+2 weeks
		R/O omphalocele
11	12+1	NT: 7.2 mm	46,XX,del(4)(q32q34)	De novo	Follow up loss
		Echogenic bowel
12	12+0	NT: 7.3 mm	45,XY,der(13;18)(q10;q10)	NA	TOP at 14+1 weeks
13	13+4	NT: 8.5 mm	46,XX,del(5)(p13)	De novo	IUFD at 14+0 weeks
		R/O cardiac anomaly
14	12+0	NT: 8.7 mm	46,XX,der(18)t(9:18)(p13.1;q22)	Maternal	IUFD at 15+3 weeks
		Hypoplastic nasal bone
15	12+1	NT: 9.3 mm	46,XX,der(4)t(1;4)(q42;p16), t(6;17)(p21.1;p12)	Maternal/ de nov	vo IUFD at 14+4 weeks

Abbreviations: NT, nuchal translucency; GA, gestational age; IUFD, intrauterine fetal demise; CHD, congenital heart disease; NA, not available; TOP, termination of pregnancy; R/O, rule out.

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