Outpatient genetic counseling
Genetic Counseling & Testing
Prenatal Diagnostics
Testing during pregnancy should feel understood.
Genetic counseling is a structured conversation with a Maternal-Fetal Medicine physician about the testing options available before and during pregnancy. The visit reviews your history, explains what each test can and cannot detect, and helps you decide which, if any, are right for you.
Setting
Outpatient
Directed by
Your OB
Approach
Patient-led
The testing journey
Most patients move through three stages of information.
Before pregnancy
Carrier screening & planning
A blood or saliva test identifies whether you or your partner carry genes for inherited conditions. Best completed before pregnancy when possible.
During pregnancy
Screening & counseling
NIPT from 10 weeks, the detailed anatomy ultrasound at 18 to 22 weeks, and a counseling visit to interpret results in the full context of your care.
After screening
Review & next steps
Results are reviewed with your OB. If screening is reassuring, routine care continues. If a closer look is helpful, diagnostic options are discussed.
What a visit involves
A counseling visit focuses on the questions most relevant to your pregnancy.
No two pregnancies are identical. A visit typically takes 30 to 45 minutes and follows a consistent structure so that you leave with a clear understanding of your options.
01 / 07
Review of personal and family history
We review the medical history of you, your partner, and immediate family — including ethnicity-based risks and prior pregnancies.
02 / 07
Discussion of screening already done
If you have completed NIPT, carrier screening, or a first-trimester ultrasound, we interpret those results in context.
03 / 07
Age-related and risk-based assessment
Maternal age, prior history, and ultrasound findings each influence the calculation of risk for chromosomal conditions.
04 / 07
Explanation of available testing
We describe screening and diagnostic options, the timing of each, and what they can and cannot detect.
05 / 07
Ultrasound when indicated
A detailed ultrasound may be performed the same day to complement the genetic information and answer specific questions.
06 / 07
Shared decision making
You decide which tests, if any, to pursue. There is no expectation of additional testing beyond what you find useful.
07 / 07
Documentation for your OB
A written consultation note summarizing findings and the plan is sent to your obstetrician and shared with you.
Types of testing
The options most often discussed in prenatal care.
Tests fall into two broad categories. Screening tests estimate the probability that a condition is present; they are not diagnostic. Diagnostic tests sample cells from the pregnancy directly and can confirm or rule out a finding. Select an option below to learn more.
Carrier screening
A simple blood or saliva test that identifies whether a parent carries one copy of a gene for an inherited condition. Carriers are almost always healthy themselves. Best completed before pregnancy when possible.
NIPT — noninvasive prenatal testing
A maternal blood test that analyzes placental DNA fragments to estimate the risk of certain chromosome conditions. Highly accurate, but a screening test — not diagnostic. An abnormal result should be confirmed before any decision is made.
First-trimester ultrasound screening
An early ultrasound that measures the back of the fetal neck (nuchal translucency). The measurement helps refine the chance of certain chromosome conditions when read alongside NIPT.
Detailed anatomy ultrasound
A thorough mid-pregnancy ultrasound that examines more than forty individual structures. Subtle physical findings can refine the interpretation of earlier genetic screening.
Amniocentesis
A diagnostic procedure in which a small sample of amniotic fluid is removed under ultrasound guidance. The fluid contains fetal cells that can be analyzed for chromosomal and genetic conditions. Performed at our office.
Chorionic villus sampling (CVS)
A first-trimester diagnostic procedure that samples a small piece of placental tissue. CVS is performed at specialized centers; our office coordinates the referral when appropriate.
Chromosomal microarray
A laboratory analysis performed on a diagnostic sample. Microarray examines chromosomes in greater detail than a standard karyotype and can detect small missing or extra segments.
Targeted single-gene testing
When a specific inherited condition is known to be a risk, testing for that single gene can be performed on a diagnostic sample or on parental blood. Results inform pregnancy planning and management.
When testing is offered
Testing is offered to every pregnancy and is particularly useful in specific situations.
Some form of screening is offered to all pregnant patients. The presence of one or more of the situations below is a reason a counseling visit becomes especially valuable. None indicates that something is wrong.
Universal offering
All pregnant patients
Carrier screening and NIPT are offered regardless of age or family history.
First-trimester ultrasound screening
Nuchal translucency measurement, available between 11 and 14 weeks.
Detailed anatomy ultrasound
A standard part of mid-pregnancy care between 18 and 22 weeks.
Counseling recommended
Abnormal or unclear screening result
An MFM visit clarifies what the result means and what comes next.
Ultrasound finding requiring evaluation
A targeted scan and counseling visit refine the interpretation.
Personal or family history of a genetic condition
Inherited risk may warrant targeted testing or additional screening.
Other reasons
Prior pregnancy loss
Counseling can help frame what testing may add for this pregnancy.
Known carrier status
Partner testing and pregnancy options are reviewed in detail.
Conception through assisted reproductive technology
Prior embryo testing is integrated into the prenatal plan.
Patient preference
A desire to better understand the options is a valid reason on its own.
If your situation is not described above, your OB can request a consultation and our office will help arrange it.
Working with your OB
The MFM team works alongside your obstetrician, not in place of them.
Your primary obstetrician continues to direct your overall care. A genetic counseling visit provides subspecialty input on testing and risk assessment that is shared back with your OB.
Personalized risk assessment
A detailed review of personal and family history, prior pregnancies, and any screening already completed.
Ultrasound integration
Detailed imaging is read alongside genetic information to provide a complete clinical picture.
Interpretation of screening
Help making sense of NIPT, carrier screening, and other results — including what numbers mean and what does not change.
Diagnostic procedures, when indicated
Amniocentesis is performed at our office under ultrasound guidance. CVS is referred to specialized centers.
Continuous coordination
Findings and recommendations are documented and shared with your OB so that care continues without interruption.
A patient-led approach
No test is ever required. Every option is offered for your consideration; you decide what fits.
Continue learning · Schedule
The full guide expands on every topic in this article, in plain language.
A 32-page patient booklet covers every concept on this page in more detail. To meet with our team, request an appointment online and our office will coordinate with your OB.