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Abstracts of the ISPD 28th International Conference on Prenatal Diagnosis and Therapy, 7-10 July 2024, Boston.

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

• Source: Prenatal diagnosis [Prenat Diagn] 2024 Oct; Vol. 44 Suppl 2, pp. 3-22.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print Cited Medium: Internet ISSN: 1097-0223 (Electronic)

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Prenatal diagnosis and in utero treatment of congenital adrenal hyperplasia: An up-to-date comprehensive review.

• Authors : Okpaise OO; Medway Maritime Hospital, Gillingham, UK.; Ahn H

Subjects: Adrenal Hyperplasia, Congenital*/Adrenal Hyperplasia, Congenital*/Adrenal Hyperplasia, Congenital*/diagnosis ; Adrenal Hyperplasia, Congenital*/Adrenal Hyperplasia, Congenital*/Adrenal Hyperplasia, Congenital*/therapy ; Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods

• Source: Prenatal diagnosis [Prenat Diagn] 2024 May; Vol. 44 (5), pp. 635-643. Date of Electronic Publication: 2024 Mar 06.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Validation of low-pass genome sequencing for prenatal diagnosis.

• Authors : Mighton C; Division of Diagnostic Medical Genetics, Department of Pathology and Lab Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.; Institute of Health Policy Management, and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

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

• Source: Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 443-453. Date of Electronic Publication: 2024 Jan 27.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Single gene non-invasive prenatal testing when the father is not available for testing; concerns regarding Wynn et al., Prenatal Diagnosis 2023. 43:1344-54.

• Authors : Williams J 3rd; Reproductive Genetics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

Subjects: Prenatal Diagnosis* ; Down Syndrome*/Down Syndrome*/Down Syndrome*/diagnosis; Pregnancy

• Source: Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 527-528. Date of Electronic Publication: 2023 Nov 22.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Improving prenatal diagnosis through standards and aggregation.

• Authors : Duyzend MH; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

Subjects: Prenatal Diagnosis* ; Precision Medicine*; Pregnancy

• Source: Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 454-464. Date of Electronic Publication: 2024 Jan 19.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.

• Authors : Jaillard A; Department of Radiology, Armand-Trousseau Hospital, APHP, Sorbonne University, Paris, France.; Valence S

Subjects: Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods ; Magnetic Resonance Imaging*/Magnetic Resonance Imaging*/Magnetic Resonance Imaging*/methods ; Cerebellar Diseases*Pontocerebellar Hypoplasia

• Source: Prenatal diagnosis [Prenat Diagn] 2024 Jan; Vol. 44 (1), pp. 35-48. Date of Electronic Publication: 2024 Jan 02.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management.

• Authors : Shinar S; Department of Obstetrics and Gynaecology, Division of Maternal Fetal Medicine, Ontario Fetal Centre, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Chitayat D

Subjects: Prenatal Diagnosis* ; Megalencephaly*/Megalencephaly*/Megalencephaly*/diagnosis ; Megalencephaly*/Megalencephaly*/Megalencephaly*/therapy

• Source: Prenatal diagnosis [Prenat Diagn] 2023 Dec; Vol. 43 (13), pp. 1650-1661. Date of Electronic Publication: 2023 Nov 27.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases.

• Authors : Lin L; Department of Central Laboratory, Peking University First Hospital, Beijing, China.; Department of Clinical Laboratory, Peking Union Medical College Hospital, Beijing, China.

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Genetic Testing*/Genetic Testing*/Genetic Testing*/standards ; Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods

• Source: Prenatal diagnosis [Prenat Diagn] 2024 Aug; Vol. 44 (9), pp. 1053-1061. Date of Electronic Publication: 2024 Jun 19.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.

• Authors : Reilly K; Centre for Public Health, Queens University Belfast, Belfast, UK.; Sonner S

Subjects: Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/genetics ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/diagnosis ; Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods

• Source: Prenatal diagnosis [Prenat Diagn] 2024 Jun; Vol. 44 (6-7), pp. 821-831. Date of Electronic Publication: 2024 May 06.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies.

• Authors : Hui L; Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, Victoria, Australia.; Reproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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

• Source: Prenatal diagnosis [Prenat Diagn] 2023 Jun; Vol. 43 (7), pp. 814-828. Date of Electronic Publication: 2023 May 16.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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