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Academic Journal

Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.

  • Authors : Lin Q; Center of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care Hospital, Zhanjiang, China. .; Liang C

Subjects: DNA Copy Number Variations* ; Prenatal Diagnosis*; Pregnancy

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Feb 21; Vol. 17 (1), pp. 57. Date of Electronic Publication: 2024 Feb 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Association of prenatal thoracic ultrasound abnormalities with copy number variants at a single Chinese tertiary center.

  • Authors : Huang Q; Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.; Zhang Y

Subjects: Prenatal Diagnosis* ; DNA Copy Number Variations*; Pregnancy

  • Source: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics [Int J Gynaecol Obstet] 2024 Feb; Vol. 164 (2), pp. Publisher: Wiley Country of Publication: United States NLM ID: 0210174 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-3479

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Editorial & Opinion

Letter to the Editor: Comment to Diderich et al. "The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis" (EJMG 66(10),104844).

  • Authors : Chen F; Prenatal Diagnosis Unit, Panyu Maternal and Child Care Service Centre of Guangzhou, He Xian Memorial Hospital, Guangzhou, Guangdong, China.; Li DZ

Subjects: Clinical Relevance* ; Prenatal Diagnosis*; Pregnancy

  • Source: European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104883. Date of Electronic Publication: 2023 Nov 08.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Editorial & Opinion

Response to the comment on Diderich et al. "The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis" (EJMG 66(10),104844).

  • Authors : Diderich KEM; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands. Electronic address: .; Klapwijk JE

Subjects: Clinical Relevance* ; Prenatal Diagnosis*; Pregnancy

  • Source: European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104884. Date of Electronic Publication: 2023 Nov 14.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Review

Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: 17-Hydroxysteroid Dehydrogenases* ; Chromosome Deletion* ; Prenatal Diagnosis* Renal Adysplasia

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Jan; Vol. 63 (1), pp. 77-80.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Supporting patient decision-making in non-invasive prenatal testing: a comparative study of professional values and practices in England and France.

  • Authors : Bowman-Smart H; Ethox Centre, University of Oxford, Oxford, UK.; Monash Bioethics Centre, Monash University, Melbourne, Australia.

Subjects: Prenatal Diagnosis* ; Down Syndrome*; Pregnancy

  • Source: BMC medical ethics [BMC Med Ethics] 2024 Mar 21; Vol. 25 (1), pp. 34. Date of Electronic Publication: 2024 Mar 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101088680 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6939

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Academic Journal

[Prenatal ultrasonographic manifestations and genetic diagnosis of nine fetuses with 7q11.23 duplication syndrome].

  • Authors : Li P; Prenatal Diagnosis Center, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .; Guo J

Subjects: Prenatal Diagnosis* ; Heart Septal Defects, Ventricular*; Female

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Mar 10; Vol. 41 (3), pp. 266-270.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

False positive non-invasive prenatal testing (NIPT) for partial deletion of chromosome 7q in a pregnancy associated with maternal uterine fibroids and a normal maternal blood cytogenetic result.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: Prenatal Diagnosis* ; Chromosome Disorders*/Chromosome Disorders*/Chromosome Disorders*/genetics; Pregnancy

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Mar; Vol. 63 (2), pp. 279-280.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Cell-Free DNA Screening for Single-Gene Disorders.

  • Authors : Goodhue BS; Certified Genetic Counselor, Division of Maternal Fetal Medicine.; Danity SE

Subjects: Prenatal Diagnosis* ; Cell-Free Nucleic Acids*; Pregnancy

  • Source: Obstetrical & gynecological survey [Obstet Gynecol Surv] 2024 Mar; Vol. 79 (3), pp. 176-181.Publisher: Williams and Wilkins Country of Publication: United States NLM ID: 0401007 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.

Subjects: Placenta* ; Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods; Pregnancy

  • Source: Prenatal diagnosis [Prenat Diagn] 2024 Mar; Vol. 44 (3), pp. 304-316. Date of Electronic Publication: 2024 Feb 27.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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  • 1-10 of  76,220 results for ""PRENATAL diagnosis""