This page is dedicated to the Complex Fetal Anomalies research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Complex Fetal Anomalies research study, established at Boston Children’s in 2022, is led by Dr. Monica Wojcik and has already enrolled 16 families. The study aims to identify genetic causes of complex fetal anomalies and provide personalized medicine.
Disease information
Complex fetal anomalies include multiple congenital anomalies, findings concerning neuromuscular disease or skeletal dysplasia, and other fetal phenotypes that occur during intrauterine life. Some common conditions seen in this study include:
- Cleft lip/palate
- Micropthalmia
- Congenital heart disease
- Holoprosencephaly
- Agenesis of the corpus callosum
- Arthrogryposis
- Hydrops fetalis
- Brain malformations
- Overgrowth syndrome
- Fetal growth restrictions
- Cystic hygroma
These conditions develop prenatally and may be identified before or at birth, or later in life. Anomalies, or birth defects, are caused by genetic or environmental factors or a combination of the two (multifactorial birth defects). In most cases, however, the cause is unknown.
It is estimated that 20-30% of individuals with congenital anomalies have an underlying genetic cause for their condition. Learn more about complex fetal anomalies and other fetal conditions seen at Boston Children’s.
Key outcomes
25% of families have received definitive diagnoses and others have candidate disease-associated genes being investigated. Several diagnoses have involved autosomal recessive conditions with both parents as carriers, thus the genetic testing results can be used in future pregnancy planning.
Participate in research
Physicians may refer their patients with congenital anomalies to Dr. Wojcik. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Wocjik’s studies, including the Complex Fetal Anomalies study, on the Wojcik lab webpage.
Patient care
Patients and their families with congenital anomalies can be seen by an expert multidisciplinary team in the Neonatal Genomics Program at Boston Children’s. Learn more about complex fetal anomalies and other fetal conditions.
Investigators
Divisions
Notable publications by investigator
Genetic diagnosis in the fetus.
Disease support organizations
American Cleft Palate Craniofacial Association
The American Cleft Palate Craniofacial Association (ACPA) supports, educates, and encourages families at critical points in their cleft and craniofacial journeys and optimizes patient outcomes through an interdisciplinary professional network of healthcare providers serving patients with cleft lip, cleft palate, and craniofacial differences.
American Childhood Cancer Organization
The American Childhood Cancer Organization (ACCO) is the nation’s oldest and largest grassroots organization dedicated to making childhood cancer a national health priority by shaping policy, supporting research, raising awareness, and providing educational resources and programs to children with cancer, childhood cancer survivors, and their families.
Association for the Bladder Exstrophy Community
The Association for the Bladder Exstrophy Community (A-BE-C) is an international support network for patients and families living with bladder exstrophy. It is committed to ensuring that all people affected by bladder exstrophy have the opportunity to realize their greatest life purpose and potential.
Avery’s Angels Gastroschisis Foundation
Avery’s Angels Gastroschisis Foundation is an all-volunteer nonprofit organization dedicated to research, awareness, and support for patients and families affected by Gastroschisis.
Fetal Health Foundation
Fetal Health Foundation is a nonprofit organization that supports families receiving a fetal syndrome diagnosis, funds life-saving research, increases fetal syndrome awareness, and shares leading medical information on fetal syndromes.
Birth Defect Research for Children, Inc.
Birth Defect Research for Children, Inc. (BDRC) is a non-profit organization that provides parents and expectant parents with information about birth defects and support services for their children. BDRC has a parent-matching program that links families who have children with similar birth defects.
CDH International
CDH International represents a collective group of hospitals, researchers, and charities united in a global initiative to combat Congenital Diaphragmatic Hernia (CDH). CDH International's primary focus is to work collaboratively to find effective solutions to stop CDH and enhance the care and support available to affected families worldwide. The organization has a large support network for families that provides support forums, care packages, local events, conferences, and much more.
Clubfoot C.A.R.E.S.
Clubfoot C.A.R.E.S. is a U.S. based advocacy group dedicated to promoting public awareness of clubfoot and The Ponseti Method to treat clubfoot, as well as educate and empower patients and their families.
Hope Walks
Hope Walks empowers local healthcare professionals to provide free clubfoot and holistic care for families impacted by foot deformity. Through partnership and training, Hope Walks equips local staff at national and faith-based hospitals and rehabilitation centers around the world to advance a sustainable solution and scalable model for treating clubfoot before a child learns to walk.
Human Growth Foundation
The Human Growth Foundation (HGF) is a nonprofit organization serving as a global leader in endocrine research, education, patient advocacy, and support for children and families affected by growth disorders. HGF features up-to-date information on newly discovered and existing disorders, diseases, and syndromes of growth abnormalities, in an effort to increase awareness and the importance of early diagnosis and treatment.
myFace
myFace is dedicated to changing the faces – and transforming the lives – of children and adults with facial differences by providing access to holistic comprehensive care, education, resources, guidance, and support that pave the way for better outcomes.
National Down Syndrome Congress
The National Down Syndrome Congress (NDSC) is a leading national resource of support and information about Down syndrome, from the moment of diagnosis, whether prenatal or at birth, through adulthood. The organization fosters a network of local and regional groups across the country to support and embrace the thousands of people with Down syndrome, their families, and the professionals who support them, and works to reshape how people understand and experience Down syndrome and create a world that provides equal rights and opportunities.
Down Syndrome Diagnosis Network
Down Syndrome Diagnosis Network (DSDN) is the largest national organization supporting new and expectant parents with a Down syndrome diagnosis. The organization connects, supports, and provides accurate information to parents - and the medical professionals who serve them - from the time of diagnosis through age 3 while fostering the opportunity for lifelong connections.
National Down Syndrome Society
National Down Syndrome Society (NDSS) empowers individuals with Down syndrome and their families by driving policy change, providing resources, engaging with local communities, and shifting public perceptions. The organization’s work is achieved through three key areas of programming: Resources & Support, Advocacy & Policy, and Community Engagement.
Noonan Syndrome Foundation
The Noonan Syndrome Foundation (NSF) is a leading volunteer-based nonprofit organization that was created to help support, educate, and advocate for and on behalf of all those who have been affected by Noonan Syndrome.
Pull-through Network
The Pull-thru Network is a nonprofit organization that empowers children and families affected by congenital bowel and bladder disorders from the initial diagnosis through adulthood by offering support, education, and helping build a bridge between hospital care and home care.
RASopathiesNet
RASopathiesNet is a nonprofit organization aiming to bring together families, clinicians, and scientists to advance research and improve the quality of life for those affected by a group of genetic syndromes, including cardio-facio-cutaneous, Costello, LEOPARD/NSML, Neurofibromatosis type 1.
Spina Bifida Association
Spina Bifida Association is a network of providers, parents, adults, caregivers, and others committed to helping those affected by spina bifida to live longer, healthier lives through research, education and support, clinical care, network building, and advocacy.
Smile Train
Smile Train is the world’s largest cleft-focused organization, with a sustainable and local model of supporting surgery and other forms of essential care. Beyond surgery, local partners also provide speech therapy, psychological support, nutritional services, orthodontics, and other essential forms of care to ensure that children with clefts have everything they need to not just live, but thrive.
Operation Smile
Operation Smile is a nonprofit organization that provides world-class cleft care in more than 30 countries with help from thousands of volunteers representing more than 60 countries. In collaboration with local partners, the organization provides comprehensive care based on each child’s needs, including speech therapy, nutritional support, dentistry, orthodontics, and psychosocial support.
Reach
Reach is a nonprofit organization that supports children with upper limb differences and their families by providing resources, community connections, and opportunities to build confidence.
Newlife Charity
Newlife Charity is a nonprofit organization dedicated to providing specialist equipment, support, and care for disabled and terminally ill children across the UK.