IMFH | Maternal-Fetal Services | Physician Services | Genetic Consultative Services
A patient whose unborn baby has a known or suspected genetic or chromosome disorder, such as Down syndrome, or who has certain abnormalities seen by ultrasound or MRI imaging, is referred to a clinical geneticist who specializes in prenatal and pediatric genetics. Other reasons for referral include a family history of inherited disorder or the patient herself or her partner has a genetic disorder that could affect management of the pregnancy and delivery.
In the consultation, the patient, with her partner if she wishes, learns about the possible significance, causes and, if known, recurrence risks of the findings. The geneticist works in conjunction with other specialists in IMFH to provide as much information to the prospective parents as possible, drawing on the results of imaging and medical records and adding a focused personal and family history obtained in a confidential, non-directive session. Often genetic and/or chromosome testing are recommended for the unborn baby or the parents.
Patients are offered an opportunity to see the geneticist for follow-up consultations after genetic testing results have been obtained. If the baby is born at Hollywood Presbyterian Medical Center, which is adjacent to Childrens Hospital Los Angeles, genetics consultations are provided for the newborns as needed. The children can subsequently be followed in the Medical Genetics Clinic of Childrens Hospital Los Angeles.
Most Common Diagnoses Seen by the Clinical Geneticist
Chromosome abnormalities of various types, including trisomy 21 (Down syndrome), trisomy 18, trisomy 13, Turner syndrome, chromosome 22q11.2 microdeletion, deletions and duplications of other chromosomes. Following are links to additional resources.
- Down Syndrome, http://www1.ndss.org/
- Trisomy 13 and Trisomy 18, http://www.trisomy.org/index.php
- 22q11.2 Microdeletion Syndromes, http://www.vcfsef.org
- Chromosome Deletions, Various, http://www.chromodisorder.org/CDO/
- Most common chromosome disorders, orhter birth defects, pregnancy information, http://www.marchofdimes.com/
Congenital diaphragmatic hernia.
Additional resources for congenital diaphragmatic hernia including Spanish, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cdh-ov
Research, advocacy and support, http://www.cdhsupport.org/
Unborn babies and newborns with heart defects, with and without other findings. Following are links to additional resources.
- Congenital heart defects, http://www.congenitalheartdefects.com/
- Fact sheet on congenital heart defects, http://www.americanheart.org/presenter.jhtml?identifier=12012
- Overview of various types of heart defects includinng Spanish, http://kidshealth.org/parent/medical/heart/congenital_heart_defects.html
Limb, skeletal defects suggesting skeletal dysplasia/dwarfism. Following are links to additional resources.
Overview of types, features, causes and assessment, http://www.emedicine.com/PED/topic625.htm
Hydrocephalus, agenesis of the corpus callosum, enlarged ventricles, other brain abnormalities. Following are additional resources.
- X-linked Hydrocephalus, http://www.genetests.org/servlet/access?prg=j&db=genetests&site=gt&id=8888891&fcn=c&qry=226552&res=&key=a322uVi3GRO7D&show_flag=c
- Hydrocephalus fact sheet including Spanish, http://www.ninds.nih.gov/disorders/hydrocephalus/detail_hydrocephalus.htm
- Hydrocephalus Association, http://www.hydroassoc.org/
- Holoprosencephaly fact sheet including Spanish, http://www.ninds.nih.gov/disorders/holoprosencephaly/holoprosencephaly.htm
- Agenesis of corpus callosum fact sheet, http://www.ninds.nih.gov/disorders/holoprosencephaly/holoprosencephaly.htm
Cleft lip/palate. Following are resources for Cleft lip/palate.
- http://www.nlm.nih.gov/medlineplus/cleftlipandpalate.html Cleft lip and palate fact sheet, including in Spanish
- http://familydoctor.org/online/famdocen/home/children/parents/special/birth/034.html Frequently asked questions about cleft lip and palate
- http://kidshealth.org/parent/medical/ears/cleft_lip_palate.html Frequently asked questions about cleft lip and palate, including in Spanish
Retinoblastoma. Following are resources for Retinoblastoma.
- http://retinoblastoma.com/retinoblastoma/ Information about retinoblastoma, including in Spanish
- http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.112 Overview on website with other genetic information
Multiple abnormalities seen on ultrasound and/or MRI. Following are resources for multiple abnormalities.
- http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim Database for searching for syndromic diagnoses to match findings
- http://www.ncbi.nlm.nih.gov/sites/entrez PubMed website for searching scientific literature for diagnoses
Kidney abnormalities, such as polycystic or multicystic kidneys, missing kidneys, obstruction of urethra or ureter, duplication of kidney or collecting system. Following are additional resources for kidney abnormalities.
- http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pkd-ad Autosomal dominant polycystic kidney disease
- http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pkd-ar Autosomal recessive polycystic kidney disease
- http://www.emedicine.com/ped/topic1493.htm Multicystic renal dysplasia
- http://www.cdc.gov/mmwr/preview/mmwrhtml/00001301.htm Kidney agenesis and dysgenesis
- http://www.merck.com/mmpe/sec19/ch290/ch290b.html Various kidney abnormalities
