Iwona Lipska
Iwona Lipska has a total of 15 co-authors. Here are the top co-authors by number of shared publications:
- Anna Kutkowska-Kaźmierczak
Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland
1 shared publication - Artur Barczyk
Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland
1 shared publication - Ewa Obersztyn
Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland
1 shared publication - Gail H. Deutsch
Center for Respiratory Biology and Therapeutics Seattle Children's Research Institute Seattle Washington USA
1 shared publication - Izabela Plaskota
Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland
1 shared publication - Jan Modzelewski
1st Clinic of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Żelazna 90 St., 01-004 Warsaw, Poland
1 shared publication
Latest Publications
- Open Access
Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hypertension. Heterozygous single-nucleotide variants or copy-number variant (CNV) deletions involving the FOXF1 gene and/or its lung-specific enhancer are found in the vast majority of ACDMPV patients. ACDMPV is often accompanied by extrapulmonary malformations, including the gastrointestinal, cardiac, or genitourinary systems. Thus far, most of the described ACDMPV patients have been diagnosed post mortem, based on histologic evaluation of the lung tissue and/or genetic testing. Here, we report a case of a prenatally detected de novo CNV deletion (~0.74 Mb) involving the FOXF1 gene in a fetus with ACDMPV and hydronephrosis. Since ACDMPV is challenging to detect by ultrasound examination, the more widespread implementation of prenatal genetic testing can facilitate early diagnosis, improve appropriate genetic counselling, and further management.
Open AccessPrenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hypertension. Heterozygous single-nucleotide variants or copy-number variant (CNV) deletions involving the FOXF1 gene and/or its lung-specific enhancer are found in the vast majority of ACDMPV patients. ACDMPV is often accompanied by extrapulmonary malformations, including the gastrointestinal, cardiac, or genitourinary systems. Thus far, most of the described ACDMPV patients have been diagnosed post mortem, based on histologic evaluation of the lung tissue and/or genetic testing. Here, we report a case of a prenatally detected de novo CNV deletion (~0.74 Mb) involving the FOXF1 gene in a fetus with ACDMPV and hydronephrosis. Since ACDMPV is challenging to detect by ultrasound examination, the more widespread implementation of prenatal genetic testing can facilitate early diagnosis, improve appropriate genetic counselling, and further management.