Dong‐Zhi Li

Guangzhou Medical University

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Min Pan

First Affiliated Hospital of Fujian Medical University

Jin Han

Guangzhou Women and Children Medical Center

Xin Yang

Shenzhen Maternity and Child Healthcare Hospital

Jianying Zhou

Jilin University

Can Liao

United Imaging Healthcare (China)

Can Liao

Guangzhou Medical University

Can Liao

Guangzhou Medical University

Fan Jiang

Guangzhou Medical University

Xing-Mei Xie

Guangzhou Medical University

Li J

Peking Union Medical College Hospital

Cooperative Institutions

Guangzhou Medical University

242

Washington Center

204

University of Washington

197

Guangzhou Women and Children Medical Center

114

Southern Medical University

Sun Yat-sen University

Central South University

Sichuan University

Peking University

Chinese Academy of Medical Sciences & Peking Union Medical College

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Study on perinatal outcome of 178 fetuses with increased nnchal translucency

Mei-li Jiang Can Liao Xin Yang Dong‐Zhi Li Yan-mei Ou

Objective To investigate the perinatal outcome of fetus with increased nuchal translucency (NT) at first trimester.Methods The thickness of NT above 95th percentile of the fetuses with same crown-rump length (CRL) was set as the criteria of increased NT.The outcomes of fetuses with increased NT during early pregnancy from Jan.2008 to Dec.2009 in Guangzhou Women and Children's Medical Center were followed up.The information of ultrasound at second trimester,pregnant complications and delivery outcome were collected.All infants were followed up for 3 months after birth and were divided into four groups according to their different thickness of NT.The relationship between NT thickness and perinatal outcome were analyzed with single factor analysis of variance and multiple comparison method.Results Among the 178 cases we followed up,there were 2 spontaneous fetal losses and 19 terminations whose reasons were Down syndrome (n=6),severe a thalassemia (n =5),fetal malformations (n =7) and social factor (n =1).Among the 157newborns delivered,one was found with congenital heart disease.The rate of abnormal infants was 11.8％ (21/178) and the detection rate of abnormal infants was 9 5.2％ (20/21).Healthy living rate of fetus with NT thickness between 95th percentile and 2.9 mm was 96.1％ (122/127); 82.4％ (28/34) for those with NT thickness between 3.0 mm and 3.9 mm; and 35.3％ (6/17) when NT≥ 4.0 mm.Conclusions Increased NT might have close relationship with poor pregnant outcome.The thicker the NT,the lower the healthy living rate of the fetus.The pregnant outcome is very poor if NT≤4.0 mm. Key words: Nuchal translucency measurement; Pregnancy outcome; Survival rate

Crown-rump length

10.3760/cma.j.issn.1007-9408.2012.07.003

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Hb J-Wenchang-Wuming [α11(A9)Lys→Gln (AAG>CAG) (α2 or α1)] Compromises Neonatal Screening for α-Thalassemia with the Sebia Capillarys2 Electrophoresis System

Hemoglobin (2012)

Yin-Sheng Zhai Hai-Shen Tang Dong‐Zhi Li

We describe a Chinese newborn who was assumed to have α0-thalassemia (α0-thal) by determining the amount of Hb Bart’s (γ4) in the cord blood, but was later shown to have only α+-thal. Hb J-Wenchang-Wuming [α11(A9)Lys→Gln (AAG>CAG) (α2 or α1)] was mistaken for Hb Bart’s as both hemoglobin (Hb) variants have the same mobility.

Cord blood

10.3109/03630269.2012.691930

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Citations (2)

A KLF1 gene mutation causes β‐thalassemia minor in a Chinese family

International Journal of Laboratory Hematology (2018)

Limin Huang J. Li Yi Zhang Dong‐Zhi Li

Zhàng

Center (category theory)

10.1111/ijlh.12788

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Citations (2)

How to make an accurate diagnosis of fetal pyriform sinus fistula in utero: experience at a single medical center in mainland China

European Journal of Obstetrics & Gynecology and Reproductive Biology (2018)

Zequn Liu Jin Han Fang Fu Heng Liu Qiuming He

Pyriform Sinus

Sinus (botany)

10.1016/j.ejogrb.2018.05.039

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Citations (9)

Four Cases of Hb Q-H Disease Found in Southern China

Hemoglobin (2007)

Dong‐Zhi Li Can Liao Xing-Mei Xie Hui-Zhu Zhong Li J

Four Chinese patients with Hb Q-H disease were identified during thalassemia screening. The main hematological characteristics of Hb Q-H disease are that Hb A is absent, and Hb Q-Thailand (also known as G-Taichung, Mahidol, Kurashiki-I and Asabara) accounts for the majority of the total hemoglobin (Hb). The phenotype of this disorder is similar to that of deletional Hb H (β4) disease.

Hemoglobin variants

Hemoglobin s

Hemoglobinopathy

10.1080/03630260601059340

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Citations (7)

Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing

Frontiers in Genetics (2022)

Fang Fu Ru Li Xiao Dang Qiuxia Yu Ke Xu

Balanced chromosomal abnormalities (BCAs) are the most common chromosomal abnormalities and the frequency of congenital abnormalities is approximately twice as high in newborns with a de novo BCA, but a prenatal diagnosis based on BCAs is subject to evaluation. To detect translocation breakpoints and conduct a prenatal diagnosis, we performed whole-genome sequencing (WGS) in 21 subjects who were found BCAs, 19 balanced chromosome translocations and two inversions, in prenatal screening. In 16 BCAs on non-N-masked regions (non-NMRs), WGS detected 13 (81.2%, 13/16) BCAs, including all the inversions. All the breakpoints of 12 (12/14) cases of sufficient DNA were confirmed by Sanger sequencing. In 13 interrupted genes, CACNA1E (in case 12) and STARD7 (in case 17) are known causative and PDCL was found in subject (case 11) with situs inversus for the first time. Case 12 with abnormal ultrasound reached a definitive genetic diagnosis of CACNA1E-disease, while STARD7 exon deletion has never been found causative in patients. WGS provides the possibility of prenatal diagnosis in fetuses with BCAs, and its clinical significance also lies in providing data for postnatal diagnosis.

Sanger sequencing

Breakpoint

10.3389/fgene.2022.951829

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Association of an α-Globin Gene Cluster Duplication and Heterozygous β-Thalassemia in a Patient with a Severe Thalassemia Syndrome

Hemoglobin (2015)

Hua Jiang Sha Liu Yongling Zhang Junhui Wan Ru Li

We describe a new case of a β-thalassemia (β-thal) heterozygote with the mutation IVS-II-654 (C>T) presenting with a transfusion-dependent phenotype. Multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (CGH) analyses of the α-globin gene cluster revealed a full duplication of the α-globin genes including the upstream regulatory element. The duplicated allele and the normal allele in trans resulted in a total of six active α-globin genes. The severe clinical phenotype seemed to be related to the considerable excess of the α- and β-globin deficit caused by the presence of the β-thal. α-Globin cluster duplication should be considered in patients heterozygous for β-thal who show a more severe phenotype than β-thal trait.

Gene cluster

Compound heterozygosity

Hemoglobinopathy

Alpha-thalassemia

Heterozygote advantage

10.3109/03630269.2015.1012678

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Citations (16)

Recurrent First-trimester Cystic Hygroma with Normal Chromosomes Identified in Two Cases with a Recessive Genetic Syndrome

Journal of Medical Ultrasound (2024)

Zhen Li Dong‐Zhi Li

Abstract First-trimester cystic hygroma (CH) was a frequent finding in a general obstetric screening program for fetal aneuploidy. Chromosomal abnormalities can be diagnosed in most cases with CH, especially common trisomies and Turner syndrome. For first-trimester CH with a normal array result, management choices are limited except for waiting for serial ultrasounds to detect structural anomalies. We report two cases with a recurrent diagnosis of fetal first-trimester CH in two subsequent pregnancies. In both cases, detailed anatomic surveys in the second trimester showed structural anomalies. After excluding chromosomal abnormalities, trio-exome sequencing (ES) revealed two pathogenic variants, P3H1:c.1032T >A and c.1927_1930delinsGCTT in Case 1, and two pathogenic variants, KIAA1109:c.5788del and c. 3055C >T in Case 2. These findings were associated with two recessive genetic syndromes, osteogenesis imperfecta type VIII and Alkuraya-Kucinskas syndrome, in the two cases, respectively. Our study showed that the recurrence of fetal CH with a normal karyotype strongly indicates the existence of an autosomal recessive type of genetic disorder. For such cases, health providers should be alerted to this possibility, and early application of ES should be considered before the presentation of fetal structural anomalies which are usually present in second-trimester anatomic scans.

Cystic hygroma

Second trimester

Genetic disorder

10.4103/jmu.jmu_128_23

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Noninvasive Prenatal Testing for DiGeorge Syndrome: Is It Ready for Clinical Practice?

Fetal Diagnosis and Therapy (2021)

Yuan Zhao Dong‐Zhi Li

None

DiGeorge syndrome

10.1159/000521031

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Citations (1)

Fetal macrocephaly in late pregnancy: don't forget overgrowth syndromes

Ultrasound in Obstetrics and Gynecology (2023)

Qiuxia Yu Zhen Li X.‐M. Lin Yun‐Jing Wen Dong‐Zhi Li

Data sharing is not applicable to this article as no new data were created or analyzed in this study. Table S1 Clinical features and molecular results in 14 cases with fetal overgrowth Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Macrocephaly

Table (database)

10.1002/uog.26289

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Citations (2)