The analysis of prenatal diagnosis results and pregnancy outcome in fetal cystic hygroma

doi:10.3877/cma.j.issn.2095-5820.2019.02.005

Abstract

Abstract:

Objective

To explore the relationship between fetal cystic hygroma and chromosomal abnormalities and its pregnancy outcome.

Methods

A retrospective analysis of pregnant women with fetal cystic hygroma from January 2009 to August 2018 in our hospital.

Results

14 cases of abnormal karyotypes were detected in the 30 patient samples, and the abnormal rate was 46.67%(14/30), including 6 cases of 45, X, 4 cases of trisomy 18, 2 cases of trisomy 21 and 2 cases of chromosomal structural abnormalities. There were 13 cases of single cystic hygroma, 3 cases of abnormal karyotypes; 17 cases of cystic hygroma with other system malformations and 11 cases of abnormal karyotypes; the abnormal karyotype rate of cystic hygroma with other malformations was higher than that of single cystic hygroma malformation (64.71% vs 23.08%, P=0.0329). 6 out of 30 cases were lost to follow-up, the rate was 20.00% (6/30); 13 cases of abnormal karyotypes were all terminated, and only 1 case of 11 normal karyotype fetuses was born, the termination rate was 90.91% (10/11). The coincidence rates of 45, X, 18-trisomy, 21-trisomy, chromosomal structural abnormalities and normal karyotype fetuses after birth with prenatal phenotypes were 40.00% (2/5), 100.00% (2/2), 50.00% (1/2), 100.00% (2/2) and 75.00% (6/8), respectively.

Conclusion

The chromosome abnormalities were closely related to fetal cystic hygroma. When genetic consulting this kind of fetus, we should make a comprehensive evaluation and carefully decide whether the fetus to leave or not.

Key words: Fetal cystic hygroma, Chromosome karyotype, Trisomy 18, Pregnancy outcome

Xiaolei Xie, Fuguang Li, Weihe Tan, Weiguo Yin, Feiyan Chen. The analysis of prenatal diagnosis results and pregnancy outcome in fetal cystic hygroma[J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2019, 07(02): 84-88.

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References 17

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编号	孕龄(岁)	孕周(周)	胎儿产前超声表型	异常染色体核型	测序检测致病CNVs	妊娠结局	出生时胎儿表型
1	31	17	颈部淋巴水囊瘤	45,X	-	失访	-
2	35	18	淋巴管囊肿，鼻骨缺如，室间隔缺损	47,XN,1qh+,+18	-	人工流产	-
3	24	18	颈部淋巴水囊瘤，水肿胎	45,X	-	21周胎死宫内引产	颈部淋巴水囊瘤，皮肤水肿
4	39	19	颈部淋巴水囊瘤，水肿胎	45,X	-	引产	全身皮肤水肿
5	29	19	颈部淋巴水囊瘤，皮肤水肿	47,XN,+21	-	21周引产	特殊面容，皮肤水肿，眉间距宽
6	28	17	头颈部淋巴水囊瘤，水肿胎，室间隔缺损	45,X	-	人工流产	全身皮肤水肿
7	17	19	颈部淋巴水囊瘤	46,XN,der(18)t(4;18)(q25;q21.3)mat	-	22周引产	全身水肿，颈部淋巴水囊瘤
8	28	12	颈部淋巴水囊瘤，皮肤水肿	45,X	-	人工流产	皮肤水肿，脐膨出，颈部增厚
9	31	12	颈部淋巴水囊瘤，脐膨出，NT增厚	47,XN,+18	seq[hg19]dup(18)(p11.32q23) chr18:g.1-78077248dup	人工流产	-
10	26	13	颈部淋巴水囊瘤	45,X	-	人工流产	全身皮肤水肿，颈部淋巴水囊瘤
11	27	13	颈部淋巴水囊瘤，胎儿水肿	47,XN,+18	-	人工流产	全身皮肤水肿，颈部淋巴水囊瘤
12	29	13	淋巴管水囊瘤，颅脑发育异常	46,XY,+13,der(13;14)(q10;q10)[13]/45,XX,der(13;14)(q10;q10)[11]	-	人工流产	特殊面容，唇裂，小下颌，颈部淋巴水囊瘤
13	30	13	颈部淋巴水囊瘤，胎儿躯干皮肤水肿，三尖瓣返流	47,XN,+18	-	引产	颈部淋巴水囊瘤，皮肤水肿
14	40	13	颈部淋巴水囊瘤，NT增厚	47,XN,+21	-	人工流产	颈部淋巴水囊瘤

编号	孕龄(岁)	孕周(周)	胎儿产前超声表型	异常染色体核型	测序检测致病CNVs	妊娠结局	出生时胎儿表型
1	31	17	颈部淋巴水囊瘤	45,X	-	失访	-
2	35	18	淋巴管囊肿，鼻骨缺如，室间隔缺损	47,XN,1qh+,+18	-	人工流产	-
3	24	18	颈部淋巴水囊瘤，水肿胎	45,X	-	21周胎死宫内引产	颈部淋巴水囊瘤，皮肤水肿
4	39	19	颈部淋巴水囊瘤，水肿胎	45,X	-	引产	全身皮肤水肿
5	29	19	颈部淋巴水囊瘤，皮肤水肿	47,XN,+21	-	21周引产	特殊面容，皮肤水肿，眉间距宽
6	28	17	头颈部淋巴水囊瘤，水肿胎，室间隔缺损	45,X	-	人工流产	全身皮肤水肿
7	17	19	颈部淋巴水囊瘤	46,XN,der(18)t(4;18)(q25;q21.3)mat	-	22周引产	全身水肿，颈部淋巴水囊瘤
8	28	12	颈部淋巴水囊瘤，皮肤水肿	45,X	-	人工流产	皮肤水肿，脐膨出，颈部增厚
9	31	12	颈部淋巴水囊瘤，脐膨出，NT增厚	47,XN,+18	seq[hg19]dup(18)(p11.32q23) chr18:g.1-78077248dup	人工流产	-
10	26	13	颈部淋巴水囊瘤	45,X	-	人工流产	全身皮肤水肿，颈部淋巴水囊瘤
11	27	13	颈部淋巴水囊瘤，胎儿水肿	47,XN,+18	-	人工流产	全身皮肤水肿，颈部淋巴水囊瘤
12	29	13	淋巴管水囊瘤，颅脑发育异常	46,XY,+13,der(13;14)(q10;q10)[13]/45,XX,der(13;14)(q10;q10)[11]	-	人工流产	特殊面容，唇裂，小下颌，颈部淋巴水囊瘤
13	30	13	颈部淋巴水囊瘤，胎儿躯干皮肤水肿，三尖瓣返流	47,XN,+18	-	引产	颈部淋巴水囊瘤，皮肤水肿
14	40	13	颈部淋巴水囊瘤，NT增厚	47,XN,+21	-	人工流产	颈部淋巴水囊瘤

编号	孕龄(岁)	孕周(周)	胎儿产前超声表型	核型	测序检测致病CNVs	妊娠结局	出生时胎儿表型
1	25	13	颈部淋巴水囊瘤，全身皮肤囊性增厚	46,XN	-	人工流产	颈部淋巴管囊肿，皮肤水肿，颈部增厚
2	30	13	颈部淋巴水囊瘤，皮肤水肿	46,XN	-	人工流产	全身皮肤水肿，颈部淋巴水囊瘤
3	31	13	颈部淋巴水囊瘤	46,XN	-	人工流产	特殊面容、全身皮肤水肿，颈部淋巴水囊瘤
4	31	13	颈部淋巴水囊瘤	46,XN	-	人工流产	颈部淋巴水囊瘤
5	26	13	颈部淋巴水囊瘤，皮肤增厚	46,XN	-	人工流产	-
6	32	25	颈部淋巴管囊肿，腮腺囊肿	46,XN	-	顺产	外观良好，无畸形
7	26	25	颈部淋巴水囊瘤，胎儿水肿	46,XN	-	引产	全身软组织水肿，胸廓增大，腹围增大，腹水
8	28	13	颈部淋巴水囊瘤，头皮及躯干皮肤水肿，脐膨出	46,XN	未检出致病CNVs	引产	-
9	31	13	颈部淋巴水囊瘤	46,XN	-	人工流产	颈部淋巴水囊瘤
10	30	13	右前胸淋巴水囊瘤	46,XN,1qh+	-	胎死宫内引产	-
11	27	13	颈部淋巴水囊瘤	46,XN	-	人工流产	颈部淋巴水囊瘤，鼻扁平

编号	孕龄(岁)	孕周(周)	胎儿产前超声表型	核型	测序检测致病CNVs	妊娠结局	出生时胎儿表型
1	25	13	颈部淋巴水囊瘤，全身皮肤囊性增厚	46,XN	-	人工流产	颈部淋巴管囊肿，皮肤水肿，颈部增厚
2	30	13	颈部淋巴水囊瘤，皮肤水肿	46,XN	-	人工流产	全身皮肤水肿，颈部淋巴水囊瘤
3	31	13	颈部淋巴水囊瘤	46,XN	-	人工流产	特殊面容、全身皮肤水肿，颈部淋巴水囊瘤
4	31	13	颈部淋巴水囊瘤	46,XN	-	人工流产	颈部淋巴水囊瘤
5	26	13	颈部淋巴水囊瘤，皮肤增厚	46,XN	-	人工流产	-
6	32	25	颈部淋巴管囊肿，腮腺囊肿	46,XN	-	顺产	外观良好，无畸形
7	26	25	颈部淋巴水囊瘤，胎儿水肿	46,XN	-	引产	全身软组织水肿，胸廓增大，腹围增大，腹水
8	28	13	颈部淋巴水囊瘤，头皮及躯干皮肤水肿，脐膨出	46,XN	未检出致病CNVs	引产	-
9	31	13	颈部淋巴水囊瘤	46,XN	-	人工流产	颈部淋巴水囊瘤
10	30	13	右前胸淋巴水囊瘤	46,XN,1qh+	-	胎死宫内引产	-
11	27	13	颈部淋巴水囊瘤	46,XN	-	人工流产	颈部淋巴水囊瘤，鼻扁平

?	例数(n)	45,X表型相符率	18-三体表型相符率	21-三体表型相符率	染色体结构异常表型相符率	46,XN表型相符率	正常核型妊娠终止率
戴常平等^[5] (2008)	86	100.00%(2)	100.00%(2)	100.00%(3)	-	-(19)	84.40%(77)
冯晓等^[6] (2012)	45	-(20)	-(1)	-(1)	-(1)	81.25%(16)	62.50%(16)
王清等^[7] (2018)	84	-(14)	-(10)	-(13)	-(3)	67.44%(43)	65.12%(43)
Ganapathy等^[8] (2004)	42	90.00%(非整倍体表型相符率)			-	82.35%(17)	86.36%(22)
Malone等^[9] (2005)	134	-(19)	-(13)	-(25)	-(10)	86.10%(79)	64.62%(65)
Kharrat等^[10] (2006)	42	44.44%(9)	70.00%(10)	33.33%(6)	-	41.18%(17)	52.94%(17)
Schreurs等^[11] (2018)	185	-(49)	-(27)	-(32)	-	55.60%(63)	50.79%(63)
本研究(2018)	30	40.00%(5)	100.00%(2)	50.00%(2)	100.00%(2)	75.00%(8)	90.90%(11)

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