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My second pregnancy was uneventful, at my 12 week ultrasound some abnormalities were found and I was referred to the prenatal center in Syracuse, NY. We had a repeat ultrasound and met with a doctor who informed up our child has a symptomatic diagnosis of Meckel Gruber syndrome, her recommendation was to terminate the pregnancy and refer us to a genetic counselor. My husband and I insisted on further testing and a new doctor. 2 weeks later we had met with a new doctor and had an amniocentesis (amino) done. Following the amnio blood samples were taken from myself for genetic testing and to rule out maternal contamination (during the amino there is a risk of maternal blood mixing with the fetal sample; which would make the sample unusable) and my husband for genetic testing. The result of the amino found that the baby was a boy and he had 2 heterozygous sequence variants in the CC2D2A (MKS6) gene, which is a gene associated with MKS. My genetic testing reveled that I carry the c.4315-6_4315-3delTCTT variant and my husband carries the c.4384T>C variant. These particular variants while on a gene typically associated with MKS have not been previously reported in existing medical literature. This new doctor then asked for our decision regarding continuing the pregnancy;  we could not go through with terminating and decided to go to term. I was induced at 30 weeks gestation the baby was measuring 38 weeks gestation and our doctor deemed it would not be safe for me to continue carrying him. Jonathan passed 20 minutes after his birth, but we felt lucky we got to meet him as we were advised most MKS babies are stillborn.

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Myself, husband and our oldest daughter during my 2nd pregnancy. We love him despite not being to bring him home.

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CDC (1995) Chorionic villus sampling and amniocentesis: recommendations for prenatal counseling. Retrieved from: https://www.cdc.gov/mmwr/preview/mmwrhtml/00038393.htm. Retrieved: April 12, 2019
Hartill, V., Szymanska, K.,

Sharif, S. M., Wheway, G., & Johnson, C. A. (2017). Meckel-Gruber syndrome: an update on diagnosis, clinical management, and research advances. Frontiers in Pediatrics. https://doi-org.sunypoly.idm.oclc.org/10.3389/fped.2017.00244

Jones, D., Fiozzo, F., Waters,

B., McKnight, D., & Brown, S. (2014). First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing. Ultrasound in Obstetrics and Gynaecology, (6), 719. https://doi-org.sunypoly.idm.oclc.org/10.1002/uog.13381

Nyberg, D. A., Hallesy, D.,

Mahony, B. S., Hirsch, J. H., Luthy, D. A., & Hickok, D. (1990). Meckel-Gruber syndrome. Importance of prenatal diagnosis. Journal Of Ultrasound In Medicine: Official Journal Of The American Institute Of Ultrasound In Medicine, 9(12), 691–696. Retrieved from http://search.ebscohost.com.sunypoly.idm.oclc.org/login.aspx? direct=true&db=mnh&AN=2277397&site=eds-live

Parelkar, S., Kapadnis, S.,

Sanghvi, B., Joshi, P., Mundada, D., & Oak, S. (2013). Meckel-Gruber syndrome: a rare and lethal anomaly with review of literature. Journal of Pediatric Neurosciences, (8)2. Retrieved from http://search.ebscohost.com.sunypoly.idm. oclc.org/login.aspx?direct=true&db=edsgao&AN=edsgcl.343491197&site=eds-live

U.S. National Library of

Medicine (2012) Your guide to understanding genetic conditions. Meckel syndrome. Retrieved from: https://ghr.nlm.nih.gov/condition/meckel-syndrome#statistics. Retrieved: April 12, 2019

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Mutations in the eight genes known to be associated with MKS account for approximately 75% of all condition cases. The genetic cause is unknown in the other cases. In people with similar characteristics to those of MKS, mutations in several other genes have been identified, although it is unclear whether these individuals have MKS or a related disorder described as Meckel - like phenotype. The eight genes associated with MKS are D1 B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM67, and TMEM216 (U.S. National Library of Medicine 2012).

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MKS affects 1 in 140,000 people around the world from 13,250 to 1. It is more common in specific populations, such as about 1 in 9,000 Finnish people and about 1 in 3,000 Belgian people (U.S. National Library of Medicine 2012).

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Meckel – Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome. MKS is caused by protein - encoding mutations in genes that are primary cilium structural or functional components. Conditions caused by mutations in ciliary genes are called ciliopathies, and in this group of disorders, MKS is the most severe condition. The primary cilium is an organel based on microtubules that sprouts from the apical surface of vertebrate cells (Hartill,  Szymanska,  Sharif, Wheway, & Johnson, 2017).

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https://ghr.nlm.nih.gov/condition/meckel-syndrome#

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Autosomal Recessive Inheritance - Genetics

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Autosomal Recessive Inheritance - Genetics

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https://www.youtube.com/watch?v=Nv6qUsKYodA

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Notice the lack of bone in the back of his head where his open encephalocele was

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occipital encephalocele

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It is usually possible to suggest MKS based on characteristic pathological findings and a normal karyotype. This highlights the importance of prenatal sonography and careful postmortem examination in order to establish the correct diagnosis (Nyberg et al., 1990). Amniocentesis and Chorionic villus sampling (CVS) are prenatal diagnostic procedures used to detect certain fetal genetic abnormalities (CDC 1995). But as this genetic disorder is 100% fatal nothing can be done to prevent or cure MKS. All that can be done is early diagnosis which affords parents more time and options on the painful decision to terminate or continue the pregnancy. Early diagnosis also prepares parents and healthcare providers prepare for future pregnancies (Jones,  Fiozzo, Waters, McKnight, & Brown, 2014).
For my 3rd pregnancy I was followed closely by the prenatal center and had a CVS at 10 weeks which reveled my baby boy was not affected or even a carrier for the same variants my 2nd baby boy had.

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My 3rd healthy baby boy.

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Understanding MKS risk of re-occurrence, available prenatal testing, genetic testing, prognosis, and options available to parents is an integral part of counseling and management, particularly with regard to the recurrent risk for subsequent pregnancies (Parelkar et al., 2013).